Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA13 0 genome.wustl.edu 37 7 48685035 48685035 + Frame_Shift_Del DEL A A - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 48685035 48685035 A - DEL ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_del c.15104 p.E5035fs 0.961 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 57 0 0.00 35 19 35.19 ABCB1 0 genome.wustl.edu 37 7 87150134 87150134 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 87150134 87150134 T G SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.2744 p.K915T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 - - 79 0 0.00 16 24 60.00 ABCC4 0 genome.wustl.edu 37 13 95830267 95830267 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 13 95830267 95830267 G A SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.1624 p.R542W 0.856 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 tier1 - - 81 0 0.00 48 8 14.29 ACAN 0 genome.wustl.edu 37 15 89395210 89395210 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 89395210 89395210 A G SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.2212 p.N738D 1.000 superfamily_C-type_lectin_fold pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 73 0 0.00 39 10 20.41 ACSL5 0 genome.wustl.edu 37 10 114158683 114158683 + Nonsense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 114158683 114158683 C T SNP ACSL5 ENST00000356116 human ensembl 74_37 +1 known nonsense c.349 p.Q117* 0.768 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 tier1 - - 60 0 0.00 41 22 34.38 ACTN2 0 genome.wustl.edu 37 1 236917335 236917335 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 236917335 236917335 C A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1928 p.A643D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 tier1 - - 44 0 0.00 24 27 52.94 ADAM6 0 genome.wustl.edu 37 14 106437867 106437867 + RNA SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 106437867 106437867 C T SNP ADAM6 ENST00000452053 human ensembl 74_37 -1 known rna NULL NULL 0.153 - - - no_errors ADAM6 HGNC ENSG00000233988 tier1 - - 37 0 0.00 25 18 41.86 ADAM7 0 genome.wustl.edu 37 8 24326334 24326334 + Splice_Site SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 24326334 24326334 G T SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known splice_site c.633+1 e7+1 1.000 - - - no_errors ADAM7 HGNC ENSG00000069206 tier1 - - 96 0 0.00 11 22 66.67 ADAMTS12 0 genome.wustl.edu 37 5 33576644 33576644 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 33576644 33576644 T C SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.3487 p.R1163G 0.003 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 26 0 0.00 15 4 21.05 ADAMTS2 0 genome.wustl.edu 37 5 178540976 178540976 + Silent SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 178540976 178540976 T C SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.3528 p.P1176 0.479 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 113 0 0.00 52 25 32.47 ADCY2 0 genome.wustl.edu 37 5 7707876 7707876 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 7707876 7707876 G T SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.1326 p.E442D 0.991 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 60 0 0.00 44 3 6.38 ADCY7 0 genome.wustl.edu 37 16 50342659 50342659 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 50342659 50342659 G T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.2017 p.V673F 0.074 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 110 0 0.00 71 4 5.33 ADCY8 0 genome.wustl.edu 37 8 131964145 131964145 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 131964145 131964145 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.1210 p.R404W 0.996 superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 48 0 0.00 35 31 46.97 ADRA2B 0 genome.wustl.edu 37 2 96781560 96781560 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 96781560 96781560 C T SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known missense c.329 p.R110H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 tier1 - - 49 0 0.00 28 11 28.21 AGAP2 0 genome.wustl.edu 37 12 58130970 58130970 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 58130970 58130970 T C SNP AGAP2 ENST00000547588 human ensembl 74_37 -1 known missense c.1060 p.K354E 1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 tier1 - - 123 0 0.00 77 14 15.22 AKAP4 0 genome.wustl.edu 37 X 49957519 49957519 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 49957519 49957519 C T SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known silent c.1845 p.E615 0.005 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 tier1 - - 121 0 0.00 67 10 12.99 ALAS2 0 genome.wustl.edu 37 X 55041349 55041349 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 55041349 55041349 A G SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.1268 p.L423P 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 tier1 - - 66 0 0.00 33 16 32.65 AMBP 0 genome.wustl.edu 37 9 116832112 116832112 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 116832112 116832112 T C SNP AMBP ENST00000603230 human ensembl 74_37 -1 known missense c.631 p.M211V 0.000 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_PstgldnD_synth,prints_Lipocalin - no_errors AMBP HGNC ENSG00000106927 tier1 - - 51 0 0.00 24 11 31.43 AMIGO3 0 genome.wustl.edu 37 3 49755961 49755961 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 49755961 49755961 G A SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.938 p.S313L 0.878 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 tier1 - - 38 0 0.00 6 20 76.92 ANXA7 0 genome.wustl.edu 37 10 75135834 75135834 + RNA DEL A A - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 75135834 75135834 A - DEL ANXA7 ENST00000463788 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ANXA7 HGNC ENSG00000138279 tier1 33 0 0.00 27 4 12.90 APC 0 genome.wustl.edu 37 5 112177305 112177305 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 112177305 112177305 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.6014 p.S2005L 0.832 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 48 0 0.00 37 3 7.50 APOB 0 genome.wustl.edu 37 2 21226114 21226114 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 21226114 21226114 T G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.12180 p.E4060D 0.964 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 80 0 0.00 30 36 54.55 ARHGAP28 0 genome.wustl.edu 37 18 6882174 6882174 + Silent SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 18 6882174 6882174 T C SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known silent c.1329 p.D443 0.652 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 53 0 0.00 13 14 51.85 ARHGAP32 0 genome.wustl.edu 37 11 128843098 128843098 + Silent SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 128843098 128843098 A C SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.3261 p.S1087 0.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 63 0 0.00 58 22 27.50 ARHGAP32 0 genome.wustl.edu 37 11 128844307 128844307 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 128844307 128844307 G A SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.2743 p.L915 0.013 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 68 0 0.00 43 12 21.82 ARHGEF10L 0 genome.wustl.edu 37 1 17944985 17944987 + In_Frame_Del DEL CCT CCT - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 17944985 17944987 CCT - DEL ARHGEF10L ENST00000375408 human ensembl 74_37 +1 known in_frame_del c.137_139 p.S50in_frame_del 0.989:0.989:0.996 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 tier1 57 0 0.00 44 5 10.20 ARNT2 0 genome.wustl.edu 37 15 80843542 80843542 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 80843542 80843542 A G SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.880 p.M294V 1.000 prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 tier1 - - 112 0 0.00 57 20 25.97 ASCC3 0 genome.wustl.edu 37 6 101095202 101095202 + Silent SNP A A T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 101095202 101095202 A T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known silent c.3378 p.P1126 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 tier1 - - 80 0 0.00 55 5 8.33 ASMT 0 genome.wustl.edu 37 X 1755354 1755354 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 1755354 1755354 C T SNP ASMT ENST00000381241 human ensembl 74_37 +1 known missense c.811 p.P271S 0.994 pfam_O_MeTrfase_2,pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 tier1 - - 166 0 0.00 31 34 52.31 ASTE1 0 genome.wustl.edu 37 3 130733046 130733047 + Frame_Shift_Ins INS - - T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 130733046 130733047 - T INS ASTE1 ENST00000264992 human ensembl 74_37 -1 known frame_shift_ins c.1895_1894 p.R632fs 0.003:0.014 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 tier1 26 0 0.00 37 5 11.90 ATF7IP2 0 genome.wustl.edu 37 16 10534309 10534309 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 10534309 10534309 G A SNP ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known missense c.1184 p.G395E 0.000 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 96 0 0.00 73 4 5.19 ATP13A3 0 genome.wustl.edu 37 3 194126666 194126666 + Missense_Mutation SNP T T A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 194126666 194126666 T A SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.3663 p.Q1221H 0.408 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 tier1 - - 81 0 0.00 60 4 6.25 ATP6V1H 0 genome.wustl.edu 37 8 54727259 54727259 + Missense_Mutation SNP T T A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 54727259 54727259 T A SNP ATP6V1H ENST00000359530 human ensembl 74_37 -1 known missense c.488 p.Y163F 1.000 pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 46 0 0.00 60 4 6.06 ATP9A 0 genome.wustl.edu 37 20 50245527 50245527 + Nonsense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 50245527 50245527 C A SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known nonsense c.1753 p.E585* 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 tier1 - - 80 0 0.00 39 18 31.58 AUTS2 0 genome.wustl.edu 37 7 69064801 69064801 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 69064801 69064801 C T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known silent c.162 p.S54 0.999 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 tier1 - - 44 0 0.00 21 7 25.00 B4GALNT4 0 genome.wustl.edu 37 11 372929 372929 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 372929 372929 C T SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known silent c.426 p.H142 1.000 smart_PA14 pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 tier1 - - 40 0 0.00 21 9 30.00 BAZ2B 0 genome.wustl.edu 37 2 160181430 160181430 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 160181430 160181430 G T SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.6245 p.A2082E 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 tier1 - - 82 0 0.00 71 4 5.33 BCAS3 0 genome.wustl.edu 37 17 59465981 59465981 + Frame_Shift_Del DEL A A - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 59465981 59465981 A - DEL BCAS3 ENST00000589222 human ensembl 74_37 +1 known frame_shift_del c.2662 p.G891fs 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 tier1 52 0 0.00 22 13 37.14 BMS1P18 0 genome.wustl.edu 37 14 19904576 19904576 + RNA SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 19904576 19904576 T G SNP BMS1P18 ENST00000549877 human ensembl 74_37 +1 known rna NULL NULL 0.132 - - - no_errors BMS1P18 HGNC ENSG00000215394 tier1 - - 11 0 0.00 6 4 36.36 BOD1L1 0 genome.wustl.edu 37 4 13604828 13604828 + Silent SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 13604828 13604828 A G SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.3696 p.N1232 0.114 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 61 0 0.00 28 22 44.00 BRINP2 0 genome.wustl.edu 37 1 177250517 177250517 + Silent SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 177250517 177250517 A G SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known silent c.2205 p.K735 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 tier1 - - 50 0 0.00 28 26 48.15 BTBD8 0 genome.wustl.edu 37 1 92573557 92573557 + Missense_Mutation SNP A A T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 92573557 92573557 A T SNP BTBD8 ENST00000342818 human ensembl 74_37 +1 known missense c.661 p.R221W 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD8 HGNC ENSG00000189195 tier1 - - 53 0 0.00 50 4 7.41 C12orf68 0 genome.wustl.edu 37 12 48578103 48578103 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 48578103 48578103 C T SNP C12orf68 ENST00000316554 human ensembl 74_37 +1 known silent c.198 p.D66 1.000 NULL NULL - no_errors C12orf68 HGNC ENSG00000177875 tier1 - - 94 0 0.00 48 14 22.58 C22orf15 0 genome.wustl.edu 37 22 24107912 24107912 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 22 24107912 24107912 C T SNP C22orf15 ENST00000402217 human ensembl 74_37 +1 known missense c.440 p.P147L 0.000 NULL superfamily_Ferritin-like_SF - no_errors C22orf15 HGNC ENSG00000169314 tier1 - - 52 0 0.00 20 5 20.00 C3orf67 0 genome.wustl.edu 37 3 58849417 58849417 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 58849417 58849417 G A SNP C3orf67 ENST00000482387 human ensembl 74_37 -1 known missense c.1085 p.A362V 1.000 NULL NULL - no_errors C3orf67 HGNC ENSG00000163689 tier1 - - 71 0 0.00 37 4 9.76 C6orf132 0 genome.wustl.edu 37 6 42072477 42072477 + Frame_Shift_Del DEL C C - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 42072477 42072477 C 0 DEL C6orf132 ENST00000341865 human ensembl 74_37 -1 putative frame_shift_del c.3173 p.G1058fs 0.999 NULL NULL - no_errors C6orf132 HGNC ENSG00000188112 27 0 0.00 4 2 33.33 C8orf34 0 genome.wustl.edu 37 8 69243294 69243294 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 69243294 69243294 G T SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.47 p.R16L 0.002 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 tier1 - - 25 0 0.00 20 5 20.00 C9orf131 0 genome.wustl.edu 37 9 35045584 35045584 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 35045584 35045584 C T SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known silent c.2958 p.S986 0.001 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 tier1 - - 46 0 0.00 43 4 8.51 CALCOCO2 0 genome.wustl.edu 37 17 46919220 46919220 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 46919220 46919220 C T SNP CALCOCO2 ENST00000258947 human ensembl 74_37 +1 known missense c.151 p.R51C 0.791 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO2 HGNC ENSG00000136436 49 0 0.00 50 3 5.66 CCDC15 0 genome.wustl.edu 37 11 124856678 124856678 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 124856678 124856678 C T SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.794 p.S265F 0.016 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 tier1 - - 51 0 0.00 36 13 26.53 CCDC30 0 genome.wustl.edu 37 1 42948563 42948563 + RNA DEL A A - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 42948563 42948563 A - DEL CCDC30 ENST00000475614 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CCDC30 HGNC ENSG00000186409 tier1 31 0 0.00 24 4 14.29 CCDC57 0 genome.wustl.edu 37 17 80146217 80146217 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 80146217 80146217 C T SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known silent c.930 p.L310 0.995 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 tier1 - - 38 0 0.00 16 3 15.79 CCDC88B 0 genome.wustl.edu 37 11 64118892 64118892 + RNA SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 64118892 64118892 A G SNP CCDC88B ENST00000463837 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors CCDC88B HGNC ENSG00000168071 tier1 - - 90 0 0.00 60 4 6.25 CCM2L 0 genome.wustl.edu 37 20 30605787 30605787 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 30605787 30605787 G A SNP CCM2L ENST00000300415 human ensembl 74_37 +1 known silent c.288 p.L96 1.000 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 tier1 - - 34 0 0.00 44 13 22.81 CD109 0 genome.wustl.edu 37 6 74530287 74530287 + Silent SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 74530287 74530287 A C SNP CD109 ENST00000287097 human ensembl 74_37 +1 known silent c.4162 p.R1388 1.000 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 - - 63 0 0.00 25 18 41.86 CD180 0 genome.wustl.edu 37 5 66492452 66492452 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 66492452 66492452 G T SNP CD180 ENST00000256447 human ensembl 74_37 -1 known missense c.18 p.S6R 0.652 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC ENSG00000134061 tier1 - - 62 0 0.00 44 5 10.20 CDC6 0 genome.wustl.edu 37 17 38457815 38457815 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 38457815 38457815 G T SNP CDC6 ENST00000209728 human ensembl 74_37 +1 known missense c.1548 p.R516S 1.000 pfam_Cdc6_C_dom,pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 tier1 - - 64 0 0.00 57 4 6.56 CDH11 0 genome.wustl.edu 37 16 65005844 65005844 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 65005844 65005844 A G SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1514 p.L505P 0.999 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 65 0 0.00 15 28 65.12 CDH4 0 genome.wustl.edu 37 20 60348099 60348099 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 60348099 60348099 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.437 p.P146L 0.321 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 55 0 0.00 33 21 38.18 CEL 0 genome.wustl.edu 37 9 135947058 135947058 + Silent SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 135947058 135947058 C A SNP CEL ENST00000372080 human ensembl 74_37 +1 known silent c.2178 p.P726 0.011 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 tier1 - - 29 0 0.00 16 12 42.86 CELF2 0 genome.wustl.edu 37 10 11363231 11363231 + Silent SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 11363231 11363231 C A SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known silent c.1176 p.T392 0.994 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 tier1 - - 57 0 0.00 60 4 6.25 CHD1 0 genome.wustl.edu 37 5 98233975 98233975 + Silent SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 98233975 98233975 A G SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known silent c.1350 p.P450 0.997 superfamily_P-loop_NTPase,pfscan_Chromo_domain/shadow pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 - - 136 0 0.00 63 16 20.25 CHD4 0 genome.wustl.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 6711207 6711209 CTT - DEL CHD4 ENST00000309577 human ensembl 74_37 -1 known in_frame_del c.357_355 p.K119in_frame_del 0.999:1.000:1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 tier1 27 0 0.00 12 2 14.29 CLASP1 0 genome.wustl.edu 37 2 122145385 122145385 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 122145385 122145385 G T SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.3221 p.T1074N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 71 0 0.00 75 4 5.06 CLEC4F 0 genome.wustl.edu 37 2 71043374 71043374 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 71043374 71043374 T C SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known missense c.1139 p.N380S 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 tier1 - - 84 0 0.00 72 19 20.88 CNBD1 0 genome.wustl.edu 37 8 88365874 88365874 + Frame_Shift_Del DEL A A - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 88365874 88365874 A - DEL CNBD1 ENST00000518476 human ensembl 74_37 +1 known frame_shift_del c.1163 p.K389fs 0.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 tier1 83 0 0.00 84 31 26.96 CNTNAP5 0 genome.wustl.edu 37 2 125405341 125405341 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 125405341 125405341 A G SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1880 p.K627R 1.000 superfamily_Fibrinogen_a/b/g_C_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 85 0 0.00 29 26 47.27 COL11A1 0 genome.wustl.edu 37 1 103345334 103345334 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 103345334 103345334 T G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.5215 p.S1739R 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 62 0 0.00 28 18 39.13 COL17A1 0 genome.wustl.edu 37 10 105801273 105801273 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 105801273 105801273 G A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.2575 p.P859S 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 - - 94 0 0.00 68 21 23.60 COL4A5 0 genome.wustl.edu 37 X 107840674 107840674 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 107840674 107840674 C A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.1655 p.T552N 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 112 0 0.00 56 17 23.29 CRAMP1L 0 genome.wustl.edu 37 16 1723954 1723954 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 1723954 1723954 G T SNP CRAMP1L ENST00000293925 human ensembl 74_37 +1 known missense c.3718 p.A1240S 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 tier1 - - 61 0 0.00 23 8 25.81 CREB3 0 genome.wustl.edu 37 9 35732839 35732839 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 35732839 35732839 G T SNP CREB3 ENST00000353704 human ensembl 74_37 +1 known missense c.70 p.G24W 0.051 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC ENSG00000107175 tier1 - - 89 0 0.00 59 4 6.35 CST8 0 genome.wustl.edu 37 20 23473636 23473636 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 23473636 23473636 C T SNP CST8 ENST00000246012 human ensembl 74_37 +1 known silent c.273 p.A91 0.927 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST8 HGNC ENSG00000125815 tier1 - - 46 0 0.00 38 4 9.52 CTC1 0 genome.wustl.edu 37 17 8133261 8133261 + Silent SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 8133261 8133261 G T SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known silent c.2959 p.R987 1.000 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 46 0 0.00 34 2 5.56 CTNNA3 0 genome.wustl.edu 37 10 68040264 68040264 + Silent SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 68040264 68040264 T C SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known silent c.1848 p.T616 0.999 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 34 0 0.00 38 2 5.00 CTNNB1 0 genome.wustl.edu 37 3 41266205 41266205 + Nonsense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 41266205 41266205 C T SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known nonsense c.202 p.Q68* 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 37 0 0.00 28 2 6.67 CTSL 0 genome.wustl.edu 37 9 90343605 90343605 + Missense_Mutation SNP G G C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 90343605 90343605 G C SNP CTSL ENST00000340342 human ensembl 74_37 +1 known missense c.502 p.D168H 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL HGNC ENSG00000135047 tier1 - - 67 0 0.00 57 10 14.71 CXXC11 0 genome.wustl.edu 37 2 242811962 242811962 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 242811962 242811962 C T SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known silent c.54 p.A18 0.020 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 tier1 - - 165 0 0.00 77 30 28.04 CYB561D1 0 genome.wustl.edu 37 1 110038827 110038827 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 110038827 110038827 G A SNP CYB561D1 ENST00000369868 human ensembl 74_37 +1 known silent c.702 p.V234 1.000 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561D1 HGNC ENSG00000174151 tier1 - - 40 0 0.00 24 9 27.27 CYP27A1 0 genome.wustl.edu 37 2 219679730 219679730 + Missense_Mutation SNP C C G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 219679730 219679730 C G SNP CYP27A1 ENST00000258415 human ensembl 74_37 +1 known missense c.1573 p.Q525E 0.466 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 tier1 - - 37 0 0.00 40 4 9.09 CYR61 0 genome.wustl.edu 37 1 86048536 86048536 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 86048536 86048536 C T SNP CYR61 ENST00000451137 human ensembl 74_37 +1 known silent c.957 p.D319 0.946 pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CYR61 HGNC ENSG00000142871 tier1 - - 64 0 0.00 34 12 26.09 DAPK1 0 genome.wustl.edu 37 9 90321700 90321700 + Frame_Shift_Del DEL C C - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 90321700 90321700 C - DEL DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_del c.3789 p.Q1265fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 25 0 0.00 20 2 9.09 DAPK1 0 genome.wustl.edu 37 9 90254585 90254585 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 90254585 90254585 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.574 p.E192K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 116 0 0.00 71 4 5.33 DCC 0 genome.wustl.edu 37 18 50985741 50985741 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 18 50985741 50985741 T G SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3532 p.S1178A 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 36 0 0.00 7 17 70.83 DFNA5 0 genome.wustl.edu 37 7 24758817 24758817 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 24758817 24758817 G A SNP DFNA5 ENST00000342947 human ensembl 74_37 -1 known missense c.425 p.P142L 0.002 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 25 0 0.00 13 2 13.33 DIO2 0 genome.wustl.edu 37 14 80669483 80669483 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 80669483 80669483 A G SNP DIO2 ENST00000422005 human ensembl 74_37 -1 known missense c.371 p.L124P 1.000 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO2 HGNC ENSG00000211448 tier1 - - 60 0 0.00 21 28 57.14 DIP2B 0 genome.wustl.edu 37 12 51102285 51102285 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 51102285 51102285 G A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known silent c.2589 p.A863 0.994 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 tier1 - - 86 0 0.00 66 20 23.26 DNAH10 0 genome.wustl.edu 37 12 124401081 124401081 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 124401081 124401081 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.10446 p.R3482 0.796 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 69 0 0.00 35 13 27.08 DNAH11 0 genome.wustl.edu 37 7 21582997 21582997 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 21582997 21582997 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.134 p.A45V 0.996 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 41 0 0.00 31 11 26.19 DNAH9 0 genome.wustl.edu 37 17 11837260 11837260 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 11837260 11837260 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.12361 p.D4121N 0.998 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 59 0 0.00 34 13 27.66 DNMT3A 0 genome.wustl.edu 37 2 25505571 25505571 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 25505571 25505571 C T SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known missense c.187 p.G63S 1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 tier1 - - 82 0 0.00 52 4 7.14 DOCK11 0 genome.wustl.edu 37 X 117712576 117712576 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 117712576 117712576 C T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known missense c.1478 p.A493V 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 tier1 - - 85 0 0.00 56 4 6.67 DPYSL3 0 genome.wustl.edu 37 5 146795411 146795411 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 146795411 146795411 C T SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known silent c.339 p.E113 0.999 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 43 0 0.00 29 3 9.38 DROSHA 0 genome.wustl.edu 37 5 31410883 31410883 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 31410883 31410883 G A SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.3637 p.R1213C 0.941 pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 tier1 - - 64 0 0.00 37 4 9.76 DSCAML1 0 genome.wustl.edu 37 11 117389188 117389188 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 117389188 117389188 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.1683 p.N561 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 60 0 0.00 20 31 60.78 DST 0 genome.wustl.edu 37 6 56485366 56485366 + Nonsense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 56485366 56485366 G A SNP DST ENST00000370765 human ensembl 74_37 -1 known nonsense c.3466 p.R1156* 0.013 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 42 0 0.00 51 3 5.56 DTX3L 0 genome.wustl.edu 37 3 122288127 122288127 + Silent SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 122288127 122288127 A G SNP DTX3L ENST00000296161 human ensembl 74_37 +1 known silent c.1191 p.S397 0.172 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 tier1 - - 37 0 0.00 37 17 31.48 DYNC1H1 0 genome.wustl.edu 37 14 102493004 102493004 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 102493004 102493004 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.8731 p.L2911 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 77 0 0.00 59 4 6.35 DYNC2H1 0 genome.wustl.edu 37 11 103124155 103124155 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 103124155 103124155 C A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.10205 p.T3402K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 72 0 0.00 61 27 30.68 EHMT2 0 genome.wustl.edu 37 6 31856023 31856023 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 31856023 31856023 G A SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.1711 p.R571C 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 31 0 0.00 14 4 22.22 EIF3J-AS1 0 genome.wustl.edu 37 15 44819512 44819512 + RNA SNP T T A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 44819512 44819512 T A SNP EIF3J-AS1 ENST00000560750 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EIF3J-AS1 HGNC ENSG00000179523 tier1 - - 31 0 0.00 13 18 58.06 ENOX2 0 genome.wustl.edu 37 X 129822857 129822857 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 129822857 129822857 G A SNP ENOX2 ENST00000338144 human ensembl 74_37 -1 known missense c.320 p.T107M 0.995 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX2 HGNC ENSG00000165675 tier1 - - 72 0 0.00 47 26 35.62 ENSG00000180458 0 genome.wustl.edu 37 19 38039041 38039041 + RNA SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 38039041 38039041 T G SNP ENSG00000180458 ENST00000316807 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors CTD-3064H18.4 Clone_based_vega_gene ENSG00000180458 tier1 - - 18 0 0.00 11 4 26.67 ENSG00000181495 0 genome.wustl.edu 37 5 32789565 32789565 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 32789565 32789565 T G SNP ENSG00000181495 ENST00000326958 human ensembl 74_37 +1 novel missense c.58 p.L20V 0.000 NULL NULL - no_errors AC026703.1 Clone_based_ensembl_gene ENSG00000181495 tier1 - - 51 0 0.00 23 9 28.12 ENSG00000214888 0 genome.wustl.edu 37 9 90473946 90473946 + RNA SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 90473946 90473946 G A SNP ENSG00000214888 ENST00000399186 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XXyac-YM21GA2.7 Clone_based_vega_gene ENSG00000214888 tier1 - - 105 0 0.00 79 39 33.05 ENSG00000216197 0 genome.wustl.edu 37 21 43720386 43720387 + RNA DEL GT GT - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 21 43720386 43720387 GT - DEL ENSG00000216197 ENST00000401378 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.000 - - - no_errors AP001623.1 Clone_based_ensembl_gene ENSG00000216197 tier1 44 0 0.00 31 3 8.82 ENSG00000228189 0 genome.wustl.edu 37 9 91262482 91262482 + RNA SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 91262482 91262482 A G SNP ENSG00000228189 ENST00000418343 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP13-60M5.2 Clone_based_vega_gene ENSG00000228189 tier1 - - 76 0 0.00 37 12 24.49 ENSG00000231817 0 genome.wustl.edu 37 13 47040111 47040111 + RNA SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 13 47040111 47040111 G A SNP ENSG00000231817 ENST00000594153 human ensembl 74_37 -1 known rna NULL NULL 0.046 - - - no_errors RP11-189B4.6 Clone_based_vega_gene ENSG00000231817 tier1 rs7320447 - 22 0 0.00 13 5 27.78 ENSG00000232633 0 genome.wustl.edu 37 5 112769190 112769190 + RNA SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 112769190 112769190 G A SNP ENSG00000232633 ENST00000416046 human ensembl 74_37 +1 known rna NULL NULL 0.273 - - - no_errors CTD-2201G3.1 Clone_based_vega_gene ENSG00000232633 tier1 - - 31 0 0.00 17 7 29.17 ENSG00000234978 0 genome.wustl.edu 37 1 142803429 142803429 + RNA SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 142803429 142803429 A C SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 - - 256 0 0.00 194 17 8.06 ENSG00000235999 0 genome.wustl.edu 37 1 149291295 149291295 + RNA SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 149291295 149291295 G A SNP ENSG00000235999 ENST00000433084 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors RP11-403I13.8 Clone_based_vega_gene ENSG00000235999 39 0 0.00 18 3 14.29 ENSG00000241358 0 genome.wustl.edu 37 3 146109174 146109174 + RNA SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 146109174 146109174 A G SNP ENSG00000241358 ENST00000490344 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-758I14.3 Clone_based_vega_gene ENSG00000241358 tier1 - - 21 0 0.00 7 9 56.25 ENSG00000253664 0 genome.wustl.edu 37 8 52233303 52233303 + RNA SNP A A T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 52233303 52233303 A T SNP ENSG00000253664 ENST00000521294 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-401H2.1 Clone_based_vega_gene ENSG00000253664 tier1 - - 52 0 0.00 20 29 59.18 ENSG00000253711 0 genome.wustl.edu 37 8 62212880 62212880 + RNA SNP T T A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 62212880 62212880 T A SNP ENSG00000253711 ENST00000518064 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-787D18.1 Clone_based_vega_gene ENSG00000253711 tier1 - - 46 0 0.00 64 4 5.88 ENSG00000255168 0 genome.wustl.edu 37 1 145273434 145273434 + Silent SNP C C G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 145273434 145273434 C G SNP ENSG00000255168 ENST00000468030 human ensembl 74_37 +1 known silent c.288 p.V96 0.314 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors RP11-458D21.5 Clone_based_vega_gene ENSG00000255168 tier1 - - 247 0 0.00 196 17 7.98 ENSG00000255537 0 genome.wustl.edu 37 11 125366549 125366549 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 125366549 125366549 C T SNP ENSG00000255537 ENST00000527818 human ensembl 74_37 +1 putative missense c.433 p.H145Y 0.006 NULL NULL - no_errors AP000708.1 Clone_based_vega_gene ENSG00000255537 tier1 - - 64 0 0.00 57 26 31.33 ENSG00000267243 0 genome.wustl.edu 37 19 29213619 29213619 + RNA SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 29213619 29213619 A C SNP ENSG00000267243 ENST00000590072 human ensembl 74_37 -1 known rna NULL NULL 0.095 - - - no_errors AC005307.3 Clone_based_vega_gene ENSG00000267243 tier1 - - 35 0 0.00 22 12 35.29 EPS15L1 0 genome.wustl.edu 37 19 16528891 16528891 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 16528891 16528891 C T SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known silent c.975 p.T325 1.000 smart_EPS15_homology,pfscan_EPS15_homology superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 tier1 - - 40 0 0.00 21 7 25.00 EYS 0 genome.wustl.edu 37 6 65300859 65300859 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 65300859 65300859 T C SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.4901 p.K1634R 0.656 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 41 0 0.00 24 6 20.00 EYS 0 genome.wustl.edu 37 6 64431646 64431646 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 64431646 64431646 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.8344 p.Y2782H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 78 0 0.00 55 3 5.17 FAM111A 0 genome.wustl.edu 37 11 58920829 58920829 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 58920829 58920829 C T SNP FAM111A ENST00000361723 human ensembl 74_37 +1 known missense c.1688 p.T563I 0.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 tier1 - - 74 0 0.00 49 6 10.91 FAM157C 0 genome.wustl.edu 37 16 90229256 90229257 + RNA INS - - CG TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 90229256 90229257 - CG INS FAM157C ENST00000570230 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors FAM157C HGNC ENSG00000260528 tier1 15 0 0.00 7 3 30.00 FAM63A 0 genome.wustl.edu 37 1 150978592 150978592 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 150978592 150978592 G T SNP FAM63A ENST00000361738 human ensembl 74_37 -1 known missense c.40 p.P14T 0.000 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 tier1 - - 47 0 0.00 55 4 6.78 FAT2 0 genome.wustl.edu 37 5 150923997 150923997 + Missense_Mutation SNP A A T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 150923997 150923997 A T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.6691 p.L2231M 0.259 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 51 0 0.00 40 4 8.89 FAT4 0 genome.wustl.edu 37 4 126238058 126238058 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 126238058 126238058 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.492 p.I164 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 38 0 0.00 13 7 35.00 FAT4 0 genome.wustl.edu 37 4 126412644 126412644 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 126412644 126412644 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.14667 p.K4889N 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 44 0 0.00 22 5 18.52 FBN3 0 genome.wustl.edu 37 19 8191462 8191462 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 8191462 8191462 T C SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.2444 p.K815R 0.405 superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 167 0 0.00 65 4 5.80 FBXO3 0 genome.wustl.edu 37 11 33792357 33792357 + Nonsense_Mutation SNP T T A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 33792357 33792357 T A SNP FBXO3 ENST00000265651 human ensembl 74_37 -1 known nonsense c.124 p.R42* 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 tier1 - - 67 0 0.00 58 4 6.45 FBXO43 0 genome.wustl.edu 37 8 101154374 101154374 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 101154374 101154374 C T SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known silent c.108 p.S36 0.561 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 tier1 - - 64 0 0.00 15 39 70.91 FCGBP 0 genome.wustl.edu 37 19 40368423 40368423 + Missense_Mutation SNP G G C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 40368423 40368423 G C SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.12925 p.L4309V 0.995 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 207 0 0.00 86 44 33.85 FCGBP 0 genome.wustl.edu 37 19 40408685 40408685 + Missense_Mutation SNP T T A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 40408685 40408685 T A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.4154 p.Q1385L 0.327 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 rs61735900 - 226 0 0.00 113 22 16.30 FCGBP 0 genome.wustl.edu 37 19 40408702 40408702 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 40408702 40408702 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.4137 p.P1379 0.085 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 rs111260775 - 219 0 0.00 100 19 15.97 FCRL4 0 genome.wustl.edu 37 1 157559110 157559110 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 157559110 157559110 C A SNP FCRL4 ENST00000271532 human ensembl 74_37 -1 known missense c.191 p.G64V 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL4 HGNC ENSG00000163518 tier1 - - 135 0 0.00 86 23 21.10 FER 0 genome.wustl.edu 37 5 108260458 108260458 + RNA SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 108260458 108260458 G T SNP FER ENST00000505323 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors FER HGNC ENSG00000151422 tier1 - - 39 0 0.00 47 4 7.84 FGF6 0 genome.wustl.edu 37 12 4554486 4554486 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 4554486 4554486 C T SNP FGF6 ENST00000228837 human ensembl 74_37 -1 known missense c.251 p.R84Q 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF6 HGNC ENSG00000111241 tier1 - - 70 0 0.00 45 19 29.69 FGF8 0 genome.wustl.edu 37 10 103530199 103530199 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 103530199 103530199 G A SNP FGF8 ENST00000320185 human ensembl 74_37 -1 known missense c.622 p.P208S 1.000 superfamily_Cytokine_IL1-like pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF8 HGNC ENSG00000107831 tier1 - - 58 0 0.00 27 12 30.77 FIGLA 0 genome.wustl.edu 37 2 71017637 71017637 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 71017637 71017637 C T SNP FIGLA ENST00000332372 human ensembl 74_37 -1 known missense c.134 p.R45Q 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FIGLA HGNC ENSG00000183733 tier1 - - 15 0 0.00 4 6 60.00 FLG 0 genome.wustl.edu 37 1 152280658 152280658 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 152280658 152280658 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6704 p.T2235I 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 144 0 0.00 66 65 49.62 FLJ40448 0 genome.wustl.edu 37 16 88809962 88809962 + RNA SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 88809962 88809962 C T SNP FLJ40448 ENST00000567588 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP5-1142A6.8 Clone_based_vega_gene ENSG00000182376 tier1 - - 90 0 0.00 30 41 57.75 FLJ45974 0 genome.wustl.edu 37 7 53879455 53879455 + RNA SNP T T A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 53879455 53879455 T A SNP FLJ45974 ENST00000380970 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors GS1-179L18.1 Clone_based_vega_gene ENSG00000205628 tier1 - - 31 0 0.00 14 10 40.00 FLRT2 0 genome.wustl.edu 37 14 86090122 86090122 + RNA SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 86090122 86090122 A C SNP FLRT2 ENST00000553650 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 55 0 0.00 19 21 52.50 FN1 0 genome.wustl.edu 37 2 216240064 216240064 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 216240064 216240064 C A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.6030 p.L2010F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 75 0 0.00 52 4 7.14 FREM3 0 genome.wustl.edu 37 4 144619387 144619387 + Silent SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 144619387 144619387 C A SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative silent c.2442 p.V814 0.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 93 0 0.00 47 128 73.14 FTCD 0 genome.wustl.edu 37 21 47557244 47557244 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 21 47557244 47557244 G A SNP FTCD ENST00000359679 human ensembl 74_37 -1 known missense c.1448 p.A483V 0.996 pfam_Cyclodeamin/CycHdrlase,superfamily_Cyclodeamin/CycHdrlase pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 48 0 0.00 13 3 18.75 GAL 0 genome.wustl.edu 37 11 68452434 68452434 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 68452434 68452434 G A SNP GAL ENST00000265643 human ensembl 74_37 +1 known missense c.43 p.A15T 0.010 NULL pfam_GMAP,pfam_Galanin,smart_Galanin_pre,prints_Galanin - no_errors GAL HGNC ENSG00000069482 56 0 0.00 20 5 20.00 GANC 0 genome.wustl.edu 37 15 42622792 42622792 + Nonsense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 42622792 42622792 G T SNP GANC ENST00000318010 human ensembl 74_37 +1 known nonsense c.1663 p.G555* 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANC HGNC ENSG00000214013 tier1 - - 40 0 0.00 31 4 11.43 GCDH 0 genome.wustl.edu 37 19 13004319 13004319 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 13004319 13004319 G T SNP GCDH ENST00000590530 human ensembl 74_37 +1 known missense c.412 p.V138F 0.038 NULL superfamily_AcylCoA_DH/oxidase_NM_dom - no_errors GCDH HGNC ENSG00000105607 tier1 - - 79 0 0.00 41 4 8.89 GCNT1 0 genome.wustl.edu 37 9 79117381 79117383 + In_Frame_Del DEL CTT CTT - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 79117381 79117383 CTT - DEL GCNT1 ENST00000376730 human ensembl 74_37 +1 known in_frame_del c.84_86 p.F29in_frame_del 0.943:0.997:1.000 NULL pfam_Glyco_trans_14 - no_errors GCNT1 HGNC ENSG00000187210 tier1 72 0 0.00 54 14 20.59 GLI3 0 genome.wustl.edu 37 7 42004019 42004019 + Missense_Mutation SNP G G C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 42004019 42004019 G C SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.4652 p.S1551C 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 62 0 0.00 50 17 25.37 GMPS 0 genome.wustl.edu 37 3 155637040 155637040 + Missense_Mutation SNP C C G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 155637040 155637040 C G SNP GMPS ENST00000496455 human ensembl 74_37 +1 known missense c.1231 p.L411V 0.981 NULL pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 tier1 - - 64 0 0.00 66 14 17.50 GNAS 0 genome.wustl.edu 37 20 57480483 57480483 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 57480483 57480483 C T SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.481 p.R161C 0.998 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 tier1 - - 71 0 0.00 55 30 35.29 GOLGA8EP 0 genome.wustl.edu 37 15 23441160 23441160 + RNA SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 23441160 23441160 C T SNP GOLGA8EP ENST00000526079 human ensembl 74_37 +1 known rna NULL NULL 0.251 - - - no_errors GOLGA8EP HGNC ENSG00000175676 tier1 - - 230 0 0.00 230 41 15.13 GOLGA8S 0 genome.wustl.edu 37 15 23602691 23602691 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 23602691 23602691 G A SNP GOLGA8S ENST00000562295 human ensembl 74_37 +1 novel silent c.234 p.P78 1.000 NULL NULL - no_errors GOLGA8S HGNC ENSG00000261739 tier1 - - 176 0 0.00 177 40 18.43 GOLGB1 0 genome.wustl.edu 37 3 121417605 121417605 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 121417605 121417605 T C SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.1750 p.R584G 0.177 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 77 0 0.00 57 3 5.00 GPR112 0 genome.wustl.edu 37 X 135432567 135432567 + Silent SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 135432567 135432567 T G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.6702 p.T2234 0.075 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 67 0 0.00 11 28 71.79 GPR112 0 genome.wustl.edu 37 X 135439883 135439883 + Silent SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 135439883 135439883 A G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.6948 p.Q2316 0.931 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 68 0 0.00 19 30 61.22 GPR148 0 genome.wustl.edu 37 2 131487111 131487111 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 131487111 131487111 C A SNP GPR148 ENST00000309926 human ensembl 74_37 +1 known missense c.387 p.F129L 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR148 HGNC ENSG00000173302 tier1 - - 22 0 0.00 22 9 29.03 GRIN2B 0 genome.wustl.edu 37 12 13717503 13717503 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 13717503 13717503 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.2669 p.T890I 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 22 0 0.00 24 2 7.69 GRM3 0 genome.wustl.edu 37 7 86394587 86394587 + Silent SNP G G C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 86394587 86394587 G C SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known silent c.126 p.G42 0.978 superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 54 0 0.00 32 3 8.57 GTF3C4 0 genome.wustl.edu 37 9 135555136 135555136 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 135555136 135555136 C T SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known silent c.2130 p.R710 0.986 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 44 0 0.00 37 4 9.76 HAPLN3 0 genome.wustl.edu 37 15 89422387 89422387 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 89422387 89422387 G A SNP HAPLN3 ENST00000359595 human ensembl 74_37 -1 known missense c.607 p.R203W 0.987 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN3 HGNC ENSG00000140511 tier1 - - 125 0 0.00 66 28 29.79 HAPLN4 0 genome.wustl.edu 37 19 19369505 19369505 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 19369505 19369505 C T SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known missense c.644 p.R215H 0.990 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 tier1 - - 96 0 0.00 44 19 30.16 HECW2 0 genome.wustl.edu 37 2 197199178 197199178 + Frame_Shift_Del DEL G G - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 197199178 197199178 G - DEL HECW2 ENST00000260983 human ensembl 74_37 -1 known frame_shift_del c.465 p.C156fs 0.990 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 tier1 80 0 0.00 43 9 17.31 HIAT1 0 genome.wustl.edu 37 1 100533698 100533698 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 100533698 100533698 C T SNP HIAT1 ENST00000370152 human ensembl 74_37 +1 known missense c.652 p.R218W 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 tier1 - - 74 0 0.00 48 4 7.69 HIRA 0 genome.wustl.edu 37 22 19384325 19384325 + Silent SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 22 19384325 19384325 G T SNP HIRA ENST00000263208 human ensembl 74_37 -1 known silent c.639 p.T213 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 tier1 - - 70 0 0.00 49 4 7.55 HK3 0 genome.wustl.edu 37 5 176308317 176308317 + Nonsense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 176308317 176308317 G T SNP HK3 ENST00000292432 human ensembl 74_37 -1 known nonsense c.2613 p.Y871* 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 tier1 - - 68 0 0.00 47 4 7.84 HLA-E 0 genome.wustl.edu 37 6 30458193 30458193 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 30458193 30458193 G T SNP HLA-E ENST00000376630 human ensembl 74_37 +1 known missense c.511 p.A171S 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-E HGNC ENSG00000204592 tier1 - - 61 0 0.00 52 4 7.14 HLA-G 0 genome.wustl.edu 37 6 29795963 29795963 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 29795963 29795963 G A SNP HLA-G ENST00000376828 human ensembl 74_37 +1 known silent c.228 p.P76 0.994 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-G HGNC ENSG00000204632 tier1 - - 100 0 0.00 80 28 25.93 HMGA1P4 0 genome.wustl.edu 37 9 131425446 131425447 + RNA INS - - T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 131425446 131425447 0 T INS HMGA1P4 ENST00000428643 human ensembl 74_37 -1 known rna NULL NULL 0.076:0.784 - - - no_errors HMGA1P4 HGNC ENSG00000234705 8 0 0.00 4 2 33.33 HMX3 0 genome.wustl.edu 37 10 124896929 124896929 + Silent SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 124896929 124896929 G T SNP HMX3 ENST00000357878 human ensembl 74_37 +1 known silent c.756 p.L252 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX3 HGNC ENSG00000188620 83 0 0.00 47 4 7.84 HOXA1 0 genome.wustl.edu 37 7 27134095 27134095 + Silent SNP C C G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 27134095 27134095 C G SNP HOXA1 ENST00000343060 human ensembl 74_37 -1 known silent c.972 p.G324 0.926 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 41 0 0.00 28 5 15.15 HSPB6 0 genome.wustl.edu 37 19 36246507 36246507 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 36246507 36246507 C T SNP HSPB6 ENST00000004982 human ensembl 74_37 -1 known silent c.399 p.T133 0.998 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP pfam_a-crystallin/Hsp20_dom,pfam_Alpha-crystallin_N,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB6 HGNC ENSG00000004776 tier1 - - 16 0 0.00 11 27 71.05 IL17B 0 genome.wustl.edu 37 5 148754128 148754128 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 148754128 148754128 A G SNP IL17B ENST00000261796 human ensembl 74_37 -1 known missense c.347 p.L116P 1.000 pfam_IL-17_fam pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17B HGNC ENSG00000127743 tier1 - - 52 0 0.00 36 4 10.00 IL19 0 genome.wustl.edu 37 1 206972299 206972299 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 206972299 206972299 G A SNP IL19 ENST00000340758 human ensembl 74_37 +1 known silent c.60 p.V20 0.000 NULL pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,prints_IL-19,prints_IL-24 - no_errors IL19 HGNC ENSG00000142224 tier1 - - 64 0 0.00 25 26 50.98 IL31RA 0 genome.wustl.edu 37 5 55164734 55164734 + Silent SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 55164734 55164734 T G SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known silent c.270 p.T90 0.867 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 tier1 - - 62 0 0.00 14 10 40.00 IL3RA 0 genome.wustl.edu 37 X 1497627 1497627 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 1497627 1497627 C T SNP IL3RA ENST00000331035 human ensembl 74_37 +1 known missense c.950 p.A317V 0.028 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 tier1 - - 208 0 0.00 70 4 5.41 IL7 0 genome.wustl.edu 37 8 79588162 79588162 + RNA SNP C C G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 79588162 79588162 C G SNP IL7 ENST00000523959 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IL7 HGNC ENSG00000104432 tier1 - - 30 0 0.00 44 11 20.00 IMMP2L 0 genome.wustl.edu 37 7 110303543 110303543 + RNA SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 110303543 110303543 T C SNP IMMP2L ENST00000489381 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors IMMP2L HGNC ENSG00000184903 tier1 - - 47 0 0.00 30 4 11.76 IREB2 0 genome.wustl.edu 37 15 78758680 78758680 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 78758680 78758680 A G SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known missense c.478 p.K160E 0.004 superfamily_Acoase/IPM_deHydtase_lsu_aba pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 tier1 - - 84 0 0.00 33 8 19.51 IRS2 0 genome.wustl.edu 37 13 110434578 110434580 + In_Frame_Del DEL GCG GCG - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 13 110434578 110434580 GCG - DEL IRS2 ENST00000375856 human ensembl 74_37 -1 known in_frame_del c.3823_3821 p.P1274in_frame_del 0.047:0.045:0.006 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 tier1 44 0 0.00 27 2 6.90 ISOC2 0 genome.wustl.edu 37 19 55966410 55966410 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 55966410 55966410 G A SNP ISOC2 ENST00000085068 human ensembl 74_37 -1 known silent c.531 p.S177 0.782 pfam_Isochorismatase-like,superfamily_Isochorismatase-like pfam_Isochorismatase-like,superfamily_Isochorismatase-like - no_errors ISOC2 HGNC ENSG00000063241 tier1 - - 140 0 0.00 67 43 39.09 ITGA4 0 genome.wustl.edu 37 2 182322980 182322980 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 182322980 182322980 C T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known silent c.255 p.P85 0.992 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 tier1 - - 33 0 0.00 17 6 26.09 ITGA8 0 genome.wustl.edu 37 10 15649741 15649741 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 15649741 15649741 C T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.1699 p.V567I 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 tier1 - - 54 0 0.00 28 12 30.00 ITGB1BP1 0 genome.wustl.edu 37 2 9546844 9546844 + RNA SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 9546844 9546844 C T SNP ITGB1BP1 ENST00000490426 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ITGB1BP1 HGNC ENSG00000119185 tier1 - - 33 0 0.00 13 7 35.00 KCNK13 0 genome.wustl.edu 37 14 90651285 90651285 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 90651285 90651285 G T SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.1165 p.G389W 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 29 0 0.00 27 2 6.90 KDM2A 0 genome.wustl.edu 37 11 66986883 66986883 + RNA SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 66986883 66986883 T C SNP KDM2A ENST00000525379 human ensembl 74_37 +1 putative rna NULL NULL 0.036 - - - no_errors KDM2A HGNC ENSG00000173120 tier1 - - 56 0 0.00 27 13 32.50 KDM2B 0 genome.wustl.edu 37 12 121947744 121947744 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 121947744 121947744 T C SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.1273 p.K425E 0.996 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 tier1 - - 50 0 0.00 13 11 45.83 KIAA0556 0 genome.wustl.edu 37 16 27752022 27752022 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 27752022 27752022 G A SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.2404 p.E802K 0.286 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 tier1 - - 46 0 0.00 33 13 28.26 KIAA1984 0 genome.wustl.edu 37 9 139701045 139701045 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 139701045 139701045 A G SNP KIAA1984 ENST00000338005 human ensembl 74_37 +1 known missense c.1199 p.Q400R 1.000 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 tier1 - - 44 0 0.00 23 4 14.81 KIAA1984-AS1 0 genome.wustl.edu 37 9 139699339 139699339 + RNA SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 139699339 139699339 G T SNP KIAA1984-AS1 ENST00000414656 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors KIAA1984-AS1 HGNC ENSG00000228544 tier1 - - 15 0 0.00 9 4 30.77 KIF3A 0 genome.wustl.edu 37 5 132051477 132051477 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 132051477 132051477 T C SNP KIF3A ENST00000378735 human ensembl 74_37 -1 known missense c.1101 p.I367M 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 tier1 - - 60 0 0.00 26 17 39.53 KLF11 0 genome.wustl.edu 37 2 10187921 10187921 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 10187921 10187921 G A SNP KLF11 ENST00000305883 human ensembl 74_37 +1 known missense c.457 p.A153T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF11 HGNC ENSG00000172059 74 0 0.00 47 3 6.00 KMT2D 0 genome.wustl.edu 37 12 49431061 49431061 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 49431061 49431061 G T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.10078 p.Q3360K 0.997 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 52 0 0.00 45 3 6.25 KNOP1 0 genome.wustl.edu 37 16 19721832 19721832 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 19721832 19721832 G A SNP KNOP1 ENST00000219837 human ensembl 74_37 -1 known missense c.1064 p.T355M 0.000 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 tier1 - - 76 0 0.00 23 20 45.45 KRT32 0 genome.wustl.edu 37 17 39622043 39622043 + Silent SNP G G C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 39622043 39622043 G C SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known silent c.690 p.L230 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 tier1 - - 70 0 0.00 44 4 8.33 LINGO1 0 genome.wustl.edu 37 15 77906450 77906450 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 77906450 77906450 C T SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.1799 p.R600Q 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 37 0 0.00 15 2 11.76 LOC101927345 0 genome.wustl.edu 37 1 143378691 143378691 + RNA SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 143378691 143378691 G A SNP LOC101927345 ENST00000428624 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 rs200050767 - 49 0 0.00 29 6 17.14 LOC101928517 0 genome.wustl.edu 37 19 51656566 51656566 + RNA SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 51656566 51656566 T C SNP LOC101928517 ENST00000600074 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-3187F8.14 Clone_based_vega_gene ENSG00000269072 tier1 - - 19 0 0.00 11 4 26.67 LOC101929353 0 genome.wustl.edu 37 4 101111193 101111193 + RNA SNP G G C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 101111193 101111193 G C SNP LOC101929353 ENST00000515782 human ensembl 74_37 +1 known rna NULL NULL 0.804 - - - no_errors RP11-588P8.1 Clone_based_vega_gene ENSG00000249710 tier1 - - 37 0 0.00 10 4 28.57 LOC645188 0 genome.wustl.edu 37 X 140714686 140714686 + RNA SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 140714686 140714686 G T SNP LOC645188 ENST00000412163 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-171K16.5 Clone_based_vega_gene ENSG00000223438 tier1 - - 71 0 0.00 9 39 81.25 LOC730102 0 genome.wustl.edu 37 1 178001582 178001582 + RNA SNP A A T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 178001582 178001582 A T SNP LOC730102 ENST00000476232 human ensembl 74_37 -1 known rna NULL NULL 0.689 - - - no_errors RP11-568K15.1 Clone_based_vega_gene ENSG00000242193 tier1 - - 66 0 0.00 33 4 10.81 LPHN2 0 genome.wustl.edu 37 1 82372903 82372903 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 82372903 82372903 T G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.275 p.I92S 1.000 pfam_Lectin_gal-bd_dom,prints_GPCR_2_latrophilin,pfscan_Lectin_gal-bd_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 45 0 0.00 36 7 16.28 LPPR4 0 genome.wustl.edu 37 1 99771527 99771527 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 99771527 99771527 C T SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.1253 p.P418L 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 tier1 - - 32 0 0.00 18 5 21.74 LRFN2 0 genome.wustl.edu 37 6 40399635 40399635 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 40399635 40399635 G T SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.1218 p.S406R 0.832 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 81 0 0.00 36 2 5.26 LRP2 0 genome.wustl.edu 37 2 170027070 170027070 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 170027070 170027070 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.11371 p.R3791W 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 68 0 0.00 39 11 22.00 LRRC36 0 genome.wustl.edu 37 16 67404883 67404883 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 67404883 67404883 C T SNP LRRC36 ENST00000329956 human ensembl 74_37 +1 known missense c.1232 p.A411V 0.999 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 tier1 - - 46 0 0.00 19 7 26.92 LRRK2 0 genome.wustl.edu 37 12 40645037 40645037 + Missense_Mutation SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 40645037 40645037 A C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.962 p.E321A 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 25 0 0.00 14 9 37.50 LUZP2 0 genome.wustl.edu 37 11 25071622 25071622 + Silent SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 25071622 25071622 A G SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known silent c.804 p.Q268 0.018 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 tier1 - - 36 0 0.00 14 18 56.25 MAGEB3 0 genome.wustl.edu 37 X 30254478 30254478 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 30254478 30254478 A G SNP MAGEB3 ENST00000361644 human ensembl 74_37 +1 known missense c.437 p.K146R 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 tier1 - - 62 0 0.00 40 8 16.67 MALSU1 0 genome.wustl.edu 37 7 23349147 23349147 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 23349147 23349147 G A SNP MALSU1 ENST00000466681 human ensembl 74_37 +1 known silent c.690 p.E230 0.295 NULL pfam_Oligomer_dom,tigrfam_Iojap/RsfS - no_errors MALSU1 HGNC ENSG00000156928 tier1 - - 34 0 0.00 39 8 17.02 MAST4 0 genome.wustl.edu 37 5 66385997 66385997 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 66385997 66385997 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known silent c.771 p.S257 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 tier1 - - 105 0 0.00 73 4 5.19 MDN1 0 genome.wustl.edu 37 6 90440524 90440524 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 90440524 90440524 C A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.5061 p.K1687N 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 97 0 0.00 59 16 21.33 MED1 0 genome.wustl.edu 37 17 37564479 37564479 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 37564479 37564479 C T SNP MED1 ENST00000300651 human ensembl 74_37 -1 known missense c.3995 p.S1332N 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 tier1 - - 23 0 0.00 44 8 15.38 MEPCE 0 genome.wustl.edu 37 7 100028975 100028975 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 100028975 100028975 G T SNP MEPCE ENST00000310512 human ensembl 74_37 +1 known missense c.1334 p.R445L 1.000 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 tier1 - - 121 0 0.00 62 4 6.06 MGAT4B 0 genome.wustl.edu 37 5 179225977 179225977 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 179225977 179225977 C T SNP MGAT4B ENST00000337755 human ensembl 74_37 -1 known missense c.1339 p.A447T 0.993 NULL pfam_Glyco_transf_54 - no_errors MGAT4B HGNC ENSG00000161013 tier1 - - 35 0 0.00 21 16 43.24 MKI67 0 genome.wustl.edu 37 10 129907608 129907608 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 129907608 129907608 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.2496 p.R832 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 26 0 0.00 24 10 29.41 MMRN2 0 genome.wustl.edu 37 10 88696628 88696628 + Missense_Mutation SNP C C G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 88696628 88696628 C G SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known missense c.2722 p.A908P 0.006 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,prints_C1q,pfscan_C1q pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 77 0 0.00 47 4 7.84 MOB3C 0 genome.wustl.edu 37 1 47078811 47078811 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 47078811 47078811 G A SNP MOB3C ENST00000271139 human ensembl 74_37 -1 known silent c.339 p.A113 0.005 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC ENSG00000142961 tier1 - - 72 0 0.00 45 16 26.23 MSS51 0 genome.wustl.edu 37 10 75187850 75187850 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 75187850 75187850 G T SNP MSS51 ENST00000299432 human ensembl 74_37 -1 known missense c.193 p.L65M 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors MSS51 HGNC ENSG00000166343 62 0 0.00 62 4 6.06 MT-RNR2 0 genome.wustl.edu 37 MT 2964 2964 + RNA SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 MT 2964 2964 T C SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 159 0 0.00 210 99 32.04 MTRR 0 genome.wustl.edu 37 5 7900207 7900207 + RNA SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 7900207 7900207 G A SNP MTRR ENST00000506115 human ensembl 74_37 +1 putative rna NULL NULL 0.069 - - - no_errors MTRR HGNC ENSG00000124275 tier1 - - 49 0 0.00 16 6 27.27 MUC16 0 genome.wustl.edu 37 19 9073258 9073258 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 9073258 9073258 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.14188 p.D4730N 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 83 0 0.00 41 17 29.31 MUC16 0 genome.wustl.edu 37 19 9077073 9077073 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 9077073 9077073 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.10373 p.T3458I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 43 0 0.00 9 20 68.97 MUC16 0 genome.wustl.edu 37 19 9083902 9083902 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 9083902 9083902 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7913 p.A2638D 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 30 0 0.00 21 3 12.50 MYH13 0 genome.wustl.edu 37 17 10212569 10212569 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 10212569 10212569 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.5151 p.V1717 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 25 0 0.00 15 3 16.67 MYH7 0 genome.wustl.edu 37 14 23902923 23902923 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 23902923 23902923 C A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.19 p.A7S 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 38 0 0.00 17 4 19.05 MYLK2 0 genome.wustl.edu 37 20 30414661 30414661 + Missense_Mutation SNP G G C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 30414661 30414661 G C SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known missense c.1144 p.D382H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK2 HGNC ENSG00000101306 tier1 - - 58 0 0.00 51 19 27.14 MYO6 0 genome.wustl.edu 37 6 76602247 76602247 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 76602247 76602247 G T SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.2947 p.A983S 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 tier1 - - 61 0 0.00 67 4 5.63 MYO7A 0 genome.wustl.edu 37 11 76924905 76924905 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 76924905 76924905 G T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.6439 p.D2147Y 1.000 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 72 0 0.00 51 3 5.56 MYRF 0 genome.wustl.edu 37 11 61541497 61541497 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 61541497 61541497 G A SNP MYRF ENST00000278836 human ensembl 74_37 +1 known missense c.1174 p.D392N 1.000 superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 43 0 0.00 34 2 5.56 N4BP2 0 genome.wustl.edu 37 4 40124821 40124821 + Nonsense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 40124821 40124821 G T SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known nonsense c.4273 p.E1425* 1.000 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 78 0 0.00 56 3 5.08 NAV1 0 genome.wustl.edu 37 1 201618308 201618308 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 201618308 201618308 C T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.512 p.P171L 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 tier1 - - 55 0 0.00 12 15 55.56 NCAM1 0 genome.wustl.edu 37 11 113078610 113078610 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 113078610 113078610 G A SNP NCAM1 ENST00000316851 human ensembl 74_37 +1 known missense c.772 p.D258N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 tier1 - - 30 0 0.00 20 8 28.57 NCKAP5 0 genome.wustl.edu 37 2 133489333 133489333 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 133489333 133489333 C T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.5420 p.R1807H 0.996 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 74 0 0.00 64 18 21.69 NCKAP5 0 genome.wustl.edu 37 2 133540076 133540076 + Silent SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 133540076 133540076 A G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.4308 p.T1436 0.033 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 35 0 0.00 26 11 29.73 NDNF 0 genome.wustl.edu 37 4 121958330 121958330 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 121958330 121958330 G A SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.796 p.R266C 0.971 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 tier1 - - 31 0 0.00 14 6 30.00 NIN 0 genome.wustl.edu 37 14 51194411 51194411 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 51194411 51194411 A G SNP NIN ENST00000453196 human ensembl 74_37 -1 known missense c.6137 p.L2046P 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 47 0 0.00 37 4 9.76 NKX2-5 0 genome.wustl.edu 37 5 172659978 172659978 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 172659978 172659978 C T SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known missense c.569 p.R190H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 tier1 - - 57 0 0.00 32 10 23.81 NOX4 0 genome.wustl.edu 37 11 89088130 89088130 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 89088130 89088130 T C SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known missense c.1280 p.K427R 1.000 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 tier1 - - 114 0 0.00 37 36 49.32 NOX5 0 genome.wustl.edu 37 15 69341356 69341356 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 69341356 69341356 C T SNP NOX5 ENST00000388866 human ensembl 74_37 +1 known silent c.1957 p.L653 1.000 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 tier1 - - 40 0 0.00 44 4 8.33 NPTN 0 genome.wustl.edu 37 15 73889549 73889549 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 73889549 73889549 G A SNP NPTN ENST00000345330 human ensembl 74_37 -1 known missense c.253 p.R85C 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NPTN HGNC ENSG00000156642 tier1 - - 48 0 0.00 24 8 25.00 NRSN1 0 genome.wustl.edu 37 6 24146173 24146173 + Nonstop_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 24146173 24146173 G T SNP NRSN1 ENST00000378491 human ensembl 74_37 +1 known nonstop c.587 p.*196L 1.000 NULL NULL - no_errors NRSN1 HGNC ENSG00000152954 tier1 - - 21 0 0.00 13 3 18.75 NUP88 0 genome.wustl.edu 37 17 5302881 5302881 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 5302881 5302881 G T SNP NUP88 ENST00000573584 human ensembl 74_37 -1 known missense c.1282 p.L428I 1.000 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 50 0 0.00 33 2 5.71 OBP2A 0 genome.wustl.edu 37 9 138439069 138439069 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 138439069 138439069 G A SNP OBP2A ENST00000342114 human ensembl 74_37 +1 known missense c.118 p.G40R 0.000 NULL superfamily_Calycin-like - no_errors OBP2A HGNC ENSG00000122136 tier1 - - 207 0 0.00 120 45 27.27 OBSCN 0 genome.wustl.edu 37 1 228468108 228468108 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 228468108 228468108 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.7892 p.S2631F 0.032 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 63 0 0.00 32 8 20.00 OBSCN 0 genome.wustl.edu 37 1 228509131 228509131 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 228509131 228509131 C A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.14589 p.S4863R 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 46 0 0.00 20 12 37.50 OR10H1 0 genome.wustl.edu 37 19 15918274 15918274 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 15918274 15918274 C A SNP OR10H1 ENST00000334920 human ensembl 74_37 -1 known missense c.574 p.D192Y 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 tier1 - - 96 0 0.00 18 55 75.34 OR13C5 0 genome.wustl.edu 37 9 107360878 107360878 + Missense_Mutation SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 107360878 107360878 A C SNP OR13C5 ENST00000374779 human ensembl 74_37 -1 known missense c.817 p.L273V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C5 HGNC ENSG00000255800 tier1 - - 58 0 0.00 34 37 52.11 OR13C8 0 genome.wustl.edu 37 9 107332000 107332000 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 107332000 107332000 C T SNP OR13C8 ENST00000335040 human ensembl 74_37 +1 known silent c.552 p.I184 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C8 HGNC ENSG00000186943 47 0 0.00 26 2 6.45 OR2L5 0 genome.wustl.edu 37 1 248185569 248185569 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 248185569 248185569 C A SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known missense c.320 p.A107E 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L5 HGNC ENSG00000197454 tier1 - - 133 0 0.00 61 49 44.55 OR4N2 0 genome.wustl.edu 37 14 20296368 20296368 + Missense_Mutation SNP G G C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 20296368 20296368 G C SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.761 p.G254A 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 tier1 - - 157 0 0.00 103 7 6.36 OR4N2 0 genome.wustl.edu 37 14 20296369 20296369 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 20296369 20296369 C T SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known silent c.762 p.G254 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 tier1 - - 157 0 0.00 104 7 6.31 OR5D13 0 genome.wustl.edu 37 11 55541539 55541539 + Missense_Mutation SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 55541539 55541539 A C SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.626 p.E209A 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 tier1 - - 67 0 0.00 21 29 58.00 OR5M8 0 genome.wustl.edu 37 11 56258648 56258648 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 56258648 56258648 A G SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.199 p.F67L 0.690 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 tier1 - - 61 0 0.00 57 20 25.97 OTUD7B 0 genome.wustl.edu 37 1 149915980 149915980 + Nonsense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 149915980 149915980 G A SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known nonsense c.2308 p.R770* 0.383 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 tier1 - - 116 0 0.00 41 25 37.88 OXGR1 0 genome.wustl.edu 37 13 97639316 97639316 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 13 97639316 97639316 C T SNP OXGR1 ENST00000298440 human ensembl 74_37 -1 known missense c.698 p.S233N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXGR1 HGNC ENSG00000165621 tier1 - - 46 0 0.00 23 4 14.81 PABPC5 0 genome.wustl.edu 37 X 90690713 90690713 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 90690713 90690713 T G SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.137 p.F46C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 tier1 - - 64 0 0.00 10 33 76.74 PAXBP1 0 genome.wustl.edu 37 21 34132172 34132173 + Frame_Shift_Ins INS - - T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 21 34132172 34132173 - T INS PAXBP1 ENST00000331923 human ensembl 74_37 -1 known frame_shift_ins c.1109_1108 p.T370fs 1.000:0.930 NULL pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 tier1 72 0 0.00 35 15 30.00 PAXIP1 0 genome.wustl.edu 37 7 154782727 154782727 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 154782727 154782727 A G SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.313 p.C105R 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 - - 46 0 0.00 26 4 13.33 PCDH8 0 genome.wustl.edu 37 13 53422026 53422026 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 13 53422026 53422026 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.546 p.R182 0.784 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 tier1 - - 11 0 0.00 4 6 60.00 PCDHB12 0 genome.wustl.edu 37 5 140590328 140590328 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 140590328 140590328 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1849 p.V617M 0.740 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 tier1 - - 256 0 0.00 134 51 27.57 PCDHB12 0 genome.wustl.edu 37 5 140590694 140590694 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 140590694 140590694 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.2215 p.V739M 0.600 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 tier1 - - 123 0 0.00 62 25 28.74 PCGF1 0 genome.wustl.edu 37 2 74733105 74733105 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 74733105 74733105 C T SNP PCGF1 ENST00000233630 human ensembl 74_37 -1 known silent c.504 p.Q168 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF1 HGNC ENSG00000115289 tier1 - - 85 0 0.00 33 14 29.79 PCNT 0 genome.wustl.edu 37 21 47746346 47746346 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 21 47746346 47746346 A G SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.110 p.K37R 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 52 0 0.00 38 2 5.00 PDGFC 0 genome.wustl.edu 37 4 157688963 157688963 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 157688963 157688963 G T SNP PDGFC ENST00000502773 human ensembl 74_37 -1 known missense c.883 p.Q295K 1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 tier1 - - 68 0 0.00 29 55 65.48 PDK4 0 genome.wustl.edu 37 7 95217103 95217103 + Frame_Shift_Del DEL T T - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 95217103 95217103 T - DEL PDK4 ENST00000005178 human ensembl 74_37 -1 known frame_shift_del c.806 p.N269fs 0.125 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK4 HGNC ENSG00000004799 tier1 66 0 0.00 29 2 6.45 PDZD4 0 genome.wustl.edu 37 X 153069861 153069861 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 153069861 153069861 C T SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known silent c.1257 p.A419 0.884 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 tier1 - - 78 0 0.00 23 27 54.00 PEX5 0 genome.wustl.edu 37 12 7344239 7344239 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 7344239 7344239 G T SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known missense c.436 p.V146L 0.992 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 tier1 - - 62 0 0.00 64 4 5.80 PGLYRP4 0 genome.wustl.edu 37 1 153317650 153317650 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 153317650 153317650 G A SNP PGLYRP4 ENST00000359650 human ensembl 74_37 -1 known silent c.348 p.A116 0.999 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP4 HGNC ENSG00000163218 tier1 - - 70 0 0.00 48 15 23.81 PHF8 0 genome.wustl.edu 37 X 54022145 54022145 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 54022145 54022145 C T SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.1412 p.R471K 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 tier1 - - 68 0 0.00 55 15 21.43 PIGQ 0 genome.wustl.edu 37 16 633346 633346 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 633346 633346 C T SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known silent c.1995 p.P665 0.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 tier1 - - 109 0 0.00 69 17 19.77 PIM2 0 genome.wustl.edu 37 X 48772135 48772135 + RNA SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 48772135 48772135 T C SNP PIM2 ENST00000485431 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors PIM2 HGNC ENSG00000102096 tier1 - - 19 0 0.00 2 4 66.67 PKMYT1 0 genome.wustl.edu 37 16 3025810 3025810 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 3025810 3025810 G T SNP PKMYT1 ENST00000262300 human ensembl 74_37 -1 known missense c.382 p.R128S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom - no_errors PKMYT1 HGNC ENSG00000127564 93 0 0.00 68 4 5.56 PLEKHG6 0 genome.wustl.edu 37 12 6428024 6428024 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 6428024 6428024 C T SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known silent c.1389 p.C463 0.942 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 tier1 - - 49 0 0.00 31 4 11.43 PNISR 0 genome.wustl.edu 37 6 99862463 99862463 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 99862463 99862463 G T SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.73 p.H25N 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 71 0 0.00 52 4 7.14 POLR3A 0 genome.wustl.edu 37 10 79753093 79753093 + Nonsense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 79753093 79753093 G T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known nonsense c.2649 p.C883* 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 tier1 - - 45 0 0.00 34 4 10.53 POU6F1 0 genome.wustl.edu 37 12 51585419 51585419 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 51585419 51585419 C T SNP POU6F1 ENST00000333640 human ensembl 74_37 -1 known missense c.520 p.A174T 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F1 HGNC ENSG00000184271 tier1 - - 117 0 0.00 110 6 5.17 PPP1CB 0 genome.wustl.edu 37 2 29006802 29006802 + Nonsense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 29006802 29006802 C T SNP PPP1CB ENST00000296122 human ensembl 74_37 +1 known nonsense c.550 p.Q184* 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CB HGNC ENSG00000213639 tier1 - - 80 0 0.00 67 4 5.63 PPP2R5B 0 genome.wustl.edu 37 11 64697828 64697828 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 64697828 64697828 G T SNP PPP2R5B ENST00000164133 human ensembl 74_37 +1 known missense c.757 p.A253S 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 49 0 0.00 36 4 10.00 PPRC1 0 genome.wustl.edu 37 10 103899593 103899594 + Frame_Shift_Del DEL AG AG - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 103899593 103899594 AG - DEL PPRC1 ENST00000278070 human ensembl 74_37 +1 known frame_shift_del c.1328_1329 p.N444fs 0.000:0.001 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 tier1 36 0 0.00 16 8 33.33 PPRC1 0 genome.wustl.edu 37 10 103906472 103906472 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 103906472 103906472 C T SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known silent c.3723 p.P1241 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 tier1 - - 50 0 0.00 33 5 13.16 PRAME 0 genome.wustl.edu 37 22 22890683 22890683 + Nonsense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 22 22890683 22890683 C A SNP PRAME ENST00000398741 human ensembl 74_37 -1 known nonsense c.1336 p.E446* 0.983 NULL NULL - no_errors PRAME HGNC ENSG00000185686 tier1 - - 62 0 0.00 22 4 15.38 PRDM6 0 genome.wustl.edu 37 5 122506648 122506648 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 122506648 122506648 G A SNP PRDM6 ENST00000407847 human ensembl 74_37 +1 known missense c.1342 p.V448M 1.000 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM6 HGNC ENSG00000061455 tier1 - - 58 0 0.00 22 27 55.10 PRKG2 0 genome.wustl.edu 37 4 82010744 82010744 + RNA SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 82010744 82010744 T C SNP PRKG2 ENST00000509169 human ensembl 74_37 -1 known rna NULL NULL 0.238 - - - no_errors PRKG2 HGNC ENSG00000138669 tier1 - - 34 0 0.00 16 5 23.81 PRPF19 0 genome.wustl.edu 37 11 60669881 60669881 + Silent SNP A A T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 60669881 60669881 A T SNP PRPF19 ENST00000227524 human ensembl 74_37 -1 known silent c.519 p.I173 0.997 NULL pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 tier1 - - 61 0 0.00 38 4 9.52 PRRG3 0 genome.wustl.edu 37 X 150868621 150868621 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 150868621 150868621 A G SNP PRRG3 ENST00000370353 human ensembl 74_37 +1 known missense c.161 p.E54G 0.989 pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 tier1 - - 56 0 0.00 11 36 76.60 PTCHD3 0 genome.wustl.edu 37 10 27702528 27702528 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 27702528 27702528 C T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.652 p.D218N 0.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 tier1 - - 50 0 0.00 20 15 42.86 PTPN13 0 genome.wustl.edu 37 4 87622936 87622936 + Nonsense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 87622936 87622936 G T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known nonsense c.1177 p.E393* 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 60 0 0.00 36 14 28.00 PTPN13 0 genome.wustl.edu 37 4 87694054 87694054 + Missense_Mutation SNP A A T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 87694054 87694054 A T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.5307 p.Q1769H 0.054 pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 60 0 0.00 33 17 34.00 PXDN 0 genome.wustl.edu 37 2 1652938 1652938 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 1652938 1652938 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2614 p.G872R 0.975 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 36 0 0.00 17 8 32.00 PYGB 0 genome.wustl.edu 37 20 25260915 25260915 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 25260915 25260915 C T SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.1106 p.T369M 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 tier1 rs201517237 - 49 0 0.00 16 4 20.00 R3HCC1L 0 genome.wustl.edu 37 10 99969226 99969226 + Nonsense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 99969226 99969226 C A SNP R3HCC1L ENST00000370584 human ensembl 74_37 +1 known nonsense c.1355 p.S452* 0.948 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 tier1 - - 20 0 0.00 17 4 19.05 RAB25 0 genome.wustl.edu 37 1 156031064 156031064 + RNA SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 156031064 156031064 C T SNP RAB25 ENST00000463614 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RAB25 HGNC ENSG00000132698 tier1 - - 49 0 0.00 25 14 35.90 RAB25 0 genome.wustl.edu 37 1 156035800 156035800 + Nonsense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 156035800 156035800 G T SNP RAB25 ENST00000361084 human ensembl 74_37 +1 known nonsense c.142 p.E48* 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB25 HGNC ENSG00000132698 63 0 0.00 43 3 6.52 RABEPK 0 genome.wustl.edu 37 9 127975666 127975666 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 127975666 127975666 T G SNP RABEPK ENST00000373538 human ensembl 74_37 +1 known missense c.229 p.L77V 0.000 pfam_Kelch_2 pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 tier1 - - 43 0 0.00 21 8 27.59 RALY 0 genome.wustl.edu 37 20 32661373 32661373 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 32661373 32661373 C T SNP RALY ENST00000246194 human ensembl 74_37 +1 known silent c.261 p.I87 1.000 smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 tier1 - - 41 0 0.00 40 23 36.51 RALY 0 genome.wustl.edu 37 20 32663702 32663702 + Missense_Mutation SNP C C G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 32663702 32663702 C G SNP RALY ENST00000246194 human ensembl 74_37 +1 known missense c.400 p.L134V 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 tier1 - - 87 0 0.00 68 22 24.44 RASGRF1 0 genome.wustl.edu 37 15 79382679 79382679 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 79382679 79382679 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.162 p.F54 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 56 0 0.00 43 4 8.51 RBFOX1 0 genome.wustl.edu 37 16 7647385 7647385 + Missense_Mutation SNP A A T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 7647385 7647385 A T SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.703 p.T235S 1.000 pirsf_RNA-bd_Fox-1,pfscan_RRM_dom pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 28 0 0.00 25 2 7.41 RFPL4A 0 genome.wustl.edu 37 19 56273434 56273434 + Silent SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 56273434 56273434 A C SNP RFPL4A ENST00000434937 human ensembl 74_37 +1 novel silent c.268 p.R90 0.190 pfam_RDM_domain_RFPL,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RFPL4A HGNC ENSG00000223638 tier1 - - 66 0 0.00 42 8 16.00 RFX6 0 genome.wustl.edu 37 6 117240321 117240321 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 117240321 117240321 T G SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.1044 p.N348K 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 - - 79 0 0.00 35 35 50.00 RIMS1 0 genome.wustl.edu 37 6 73111014 73111014 + RNA SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 73111014 73111014 A C SNP RIMS1 ENST00000431478 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 33 0 0.00 10 16 61.54 RNF10 0 genome.wustl.edu 37 12 121004647 121004647 + Silent SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 121004647 121004647 C A SNP RNF10 ENST00000413266 human ensembl 74_37 +1 known silent c.1920 p.P640 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 61 0 0.00 41 4 8.89 RPL10L 0 genome.wustl.edu 37 14 47120705 47120705 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 47120705 47120705 T G SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.235 p.S79R 0.995 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 tier1 - - 60 0 0.00 27 29 50.88 RRAGB 0 genome.wustl.edu 37 X 55755727 55755727 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 55755727 55755727 T G SNP RRAGB ENST00000262850 human ensembl 74_37 +1 known missense c.311 p.F104C 1.000 pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase - no_errors RRAGB HGNC ENSG00000083750 tier1 - - 122 0 0.00 65 25 27.78 SCAF4 0 genome.wustl.edu 37 21 33043955 33043958 + Frame_Shift_Del DEL CTCT CTCT - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 CTCT CTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 21 33043955 33043958 CTCT - DEL SCAF4 ENST00000286835 human ensembl 74_37 -1 known frame_shift_del c.3201_3198 p.R1066fs 0.915:1.000:1.000:1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 tier1 43 0 0.00 12 8 40.00 SCD 0 genome.wustl.edu 37 10 102107836 102107838 + In_Frame_Del DEL ACC ACC - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 ACC ACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 102107836 102107838 ACC - DEL SCD ENST00000370355 human ensembl 74_37 +1 known in_frame_del c.43_45 p.T18in_frame_del 0.998:0.990:0.094 NULL pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD HGNC ENSG00000099194 tier1 33 0 0.00 38 2 5.00 SCN3A 0 genome.wustl.edu 37 2 166003485 166003485 + Nonsense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 166003485 166003485 C A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known nonsense c.1435 p.G479* 0.999 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 42 0 0.00 45 3 6.25 SCN5A 0 genome.wustl.edu 37 3 38639278 38639278 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 38639278 38639278 G T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.2204 p.A735E 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 87 0 0.00 48 3 5.88 SCN8A 0 genome.wustl.edu 37 12 52078015 52078015 + Missense_Mutation SNP T T A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 52078015 52078015 T A SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.334 p.L112M 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 57 0 0.00 61 4 6.15 SEC14L5 0 genome.wustl.edu 37 16 5057472 5057472 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 5057472 5057472 C T SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known silent c.1557 p.R519 0.406 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 tier1 - - 39 0 0.00 16 11 40.74 SEC22B 0 genome.wustl.edu 37 1 145116327 145116327 + RNA DEL G G - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 145116327 145116327 G 0 DEL SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors SEC22B HGNC ENSG00000223380 96 0 0.00 85 8 8.60 SEMA3D 0 genome.wustl.edu 37 7 84666287 84666287 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 84666287 84666287 T C SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.1109 p.N370S 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 34 0 0.00 8 12 60.00 SEMA3F 0 genome.wustl.edu 37 3 50225291 50225291 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 50225291 50225291 G A SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known missense c.2101 p.A701T 0.953 NULL pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 27 0 0.00 2 2 50.00 SETX 0 genome.wustl.edu 37 9 135204702 135204702 + Silent SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 135204702 135204702 C A SNP SETX ENST00000372169 human ensembl 74_37 -1 known silent c.2283 p.S761 0.031 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 34 0 0.00 35 2 5.41 SEZ6 0 genome.wustl.edu 37 17 27287688 27287688 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 27287688 27287688 G T SNP SEZ6 ENST00000317338 human ensembl 74_37 -1 known missense c.1411 p.L471I 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 tier1 - - 62 0 0.00 34 19 35.85 SH2D1B 0 genome.wustl.edu 37 1 162368751 162368751 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 162368751 162368751 T C SNP SH2D1B ENST00000367929 human ensembl 74_37 -1 known missense c.325 p.R109G 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D1B HGNC ENSG00000198574 tier1 - - 81 0 0.00 64 4 5.80 SH3D19 0 genome.wustl.edu 37 4 152048838 152048838 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 152048838 152048838 G T SNP SH3D19 ENST00000304527 human ensembl 74_37 -1 known missense c.2188 p.P730T 0.008 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 tier1 - - 148 0 0.00 69 4 5.48 SHC4 0 genome.wustl.edu 37 15 49127155 49127155 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 49127155 49127155 G T SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known missense c.1548 p.H516Q 0.032 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 tier1 - - 39 0 0.00 30 3 9.09 SHROOM3 0 genome.wustl.edu 37 4 77662000 77662000 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 77662000 77662000 T G SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.2674 p.F892V 0.863 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 23 0 0.00 5 3 37.50 SIX3 0 genome.wustl.edu 37 2 45169639 45169640 + Frame_Shift_Del DEL GC GC - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 45169639 45169640 GC - DEL SIX3 ENST00000260653 human ensembl 74_37 +1 known frame_shift_del c.396_397 p.A136fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 tier1 36 0 0.00 24 3 11.11 SKIL 0 genome.wustl.edu 37 3 170078555 170078555 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 170078555 170078555 C A SNP SKIL ENST00000259119 human ensembl 74_37 +1 known missense c.436 p.Q146K 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 tier1 - - 36 0 0.00 43 10 18.87 SLC24A4 0 genome.wustl.edu 37 14 92953034 92953034 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 92953034 92953034 G T SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known missense c.1447 p.G483W 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 tier1 - - 82 0 0.00 55 4 6.78 SLC25A12 0 genome.wustl.edu 37 2 172641886 172641886 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 172641886 172641886 C T SNP SLC25A12 ENST00000422440 human ensembl 74_37 -1 known silent c.1935 p.T645 0.934 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 tier1 - - 80 0 0.00 42 48 53.33 SLC37A1 0 genome.wustl.edu 37 21 43938512 43938512 + RNA SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 21 43938512 43938512 T G SNP SLC37A1 ENST00000471277 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC37A1 HGNC ENSG00000160190 tier1 - - 103 0 0.00 36 16 30.77 SLC45A3 0 genome.wustl.edu 37 1 205628416 205628416 + Nonsense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 205628416 205628416 G T SNP SLC45A3 ENST00000367145 human ensembl 74_37 -1 known nonsense c.1608 p.Y536* 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 tier1 - - 55 0 0.00 43 4 8.51 SLC5A6 0 genome.wustl.edu 37 2 27423939 27423939 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 27423939 27423939 G T SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known missense c.1691 p.P564Q 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 tier1 - - 69 0 0.00 50 4 7.41 SLC5A8 0 genome.wustl.edu 37 12 101595959 101595959 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 101595959 101595959 G T SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known missense c.452 p.A151D 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 84 0 0.00 69 4 5.48 SMUG1 0 genome.wustl.edu 37 12 54576323 54576323 + Nonsense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 54576323 54576323 G A SNP SMUG1 ENST00000337581 human ensembl 74_37 -1 known nonsense c.370 p.R124* 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like - no_errors SMUG1 HGNC ENSG00000123415 tier1 rs139760820 - 45 0 0.00 31 15 32.61 SNAI2 0 genome.wustl.edu 37 8 49831376 49831376 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 49831376 49831376 A G SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.797 p.V266A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 tier1 - - 80 0 0.00 82 22 21.15 SNUPN 0 genome.wustl.edu 37 15 75890870 75890870 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 75890870 75890870 G T SNP SNUPN ENST00000371091 human ensembl 74_37 -1 known missense c.1038 p.H346Q 0.901 pirsf_Snurportin-1 pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC ENSG00000169371 tier1 - - 68 0 0.00 52 4 7.14 SNX27 0 genome.wustl.edu 37 1 151665465 151665465 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 151665465 151665465 T C SNP SNX27 ENST00000368843 human ensembl 74_37 +1 known missense c.1468 p.Y490H 1.000 NULL pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 tier1 - - 81 0 0.00 70 16 18.60 SNX31 0 genome.wustl.edu 37 8 101624292 101624292 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 101624292 101624292 C T SNP SNX31 ENST00000311812 human ensembl 74_37 -1 known missense c.547 p.E183K 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX31 HGNC ENSG00000174226 tier1 - - 59 0 0.00 28 44 61.11 SOGA3 0 genome.wustl.edu 37 6 127837154 127837154 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 127837154 127837154 G A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known silent c.606 p.R202 0.998 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 tier1 - - 12 0 0.00 5 4 44.44 SOHLH1 0 genome.wustl.edu 37 9 138585580 138585580 + Missense_Mutation SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 138585580 138585580 A C SNP SOHLH1 ENST00000425225 human ensembl 74_37 -1 known missense c.1027 p.F343V 0.005 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SOHLH1 HGNC ENSG00000165643 tier1 - - 62 0 0.00 31 9 22.50 SPATA31D1 0 genome.wustl.edu 37 9 84607806 84607806 + Silent SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 84607806 84607806 T C SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.2421 p.T807 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 87 0 0.00 50 15 23.08 SPATA42 0 genome.wustl.edu 37 1 109400924 109400924 + RNA DEL T T - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 109400924 109400924 T - DEL SPATA42 ENST00000417241 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA42 HGNC ENSG00000203897 tier1 27 0 0.00 15 2 11.76 SPIRE1 0 genome.wustl.edu 37 18 12496079 12496079 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 18 12496079 12496079 C A SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known missense c.995 p.R332L 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 60 0 0.00 26 2 6.90 SRPX 0 genome.wustl.edu 37 X 38016194 38016194 + Silent SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 38016194 38016194 G T SNP SRPX ENST00000378533 human ensembl 74_37 -1 known silent c.1044 p.P348 0.997 NULL pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 92 0 0.00 32 3 8.57 STK35 0 genome.wustl.edu 37 20 2097969 2097969 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 2097969 2097969 G T SNP STK35 ENST00000381482 human ensembl 74_37 +1 known missense c.1550 p.R517L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK35 HGNC ENSG00000125834 tier1 - - 47 0 0.00 45 4 8.16 TBCEL 0 genome.wustl.edu 37 11 120925835 120925835 + Missense_Mutation SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 120925835 120925835 A C SNP TBCEL ENST00000422003 human ensembl 74_37 +1 known missense c.530 p.K177T 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 tier1 - - 70 0 0.00 39 45 53.57 TBX22 0 genome.wustl.edu 37 X 79286534 79286534 + Missense_Mutation SNP A A T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 79286534 79286534 A T SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.1487 p.D496V 0.442 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 tier1 - - 63 0 0.00 17 44 72.13 TCEA2 0 genome.wustl.edu 37 20 62703514 62703514 + RNA SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 62703514 62703514 C A SNP TCEA2 ENST00000461072 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TCEA2 HGNC ENSG00000171703 tier1 - - 54 0 0.00 48 4 7.69 TCEANC2 0 genome.wustl.edu 37 1 54520115 54520115 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 54520115 54520115 G A SNP TCEANC2 ENST00000371331 human ensembl 74_37 +1 known missense c.110 p.R37Q 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N,superfamily_TFIIS_cen_dom,smart_TFIIS/CRSP70_N_sub - no_errors TCEANC2 HGNC ENSG00000116205 tier1 - - 37 0 0.00 32 10 23.81 TCF3 0 genome.wustl.edu 37 19 1619821 1619821 + Frame_Shift_Del DEL G G - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 1619821 1619821 G - DEL TCF3 ENST00000262965 human ensembl 74_37 -1 known frame_shift_del c.1125 p.G376fs 0.983 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 tier1 64 0 0.00 26 3 10.34 TCHH 0 genome.wustl.edu 37 1 152084429 152084429 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 152084429 152084429 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.1264 p.E422K 0.857 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 120 0 0.00 82 19 18.81 TENM3 0 genome.wustl.edu 37 4 183268007 183268007 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 183268007 183268007 T C SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.436 p.C146R 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 53 0 0.00 28 10 26.32 TFAP2C 0 genome.wustl.edu 37 20 55204645 55204645 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 20 55204645 55204645 C T SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known silent c.45 p.C15 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 tier1 - - 146 0 0.00 122 25 16.89 TFIP11 0 genome.wustl.edu 37 22 26892716 26892716 + Nonsense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 22 26892716 26892716 G A SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known nonsense c.1576 p.Q526* 1.000 pfam_GCFC_dom pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 tier1 - - 75 0 0.00 30 19 38.78 TGFBR2 0 genome.wustl.edu 37 3 30713853 30713853 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 30713853 30713853 G T SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1253 p.C418F 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 32 0 0.00 13 19 59.38 THAP3 0 genome.wustl.edu 37 1 6692910 6692910 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 6692910 6692910 G A SNP THAP3 ENST00000054650 human ensembl 74_37 +1 known missense c.493 p.A165T 0.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP3 HGNC ENSG00000041988 tier1 - - 93 0 0.00 62 5 7.35 THSD7B 0 genome.wustl.edu 37 2 138208594 138208594 + Splice_Site SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 138208594 138208594 G T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known splice_site c.3138+1 e14+1 1.000 - - - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 50 0 0.00 22 9 29.03 THSD7B 0 genome.wustl.edu 37 2 138400127 138400127 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 138400127 138400127 T G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.3878 p.L1293R 0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 29 0 0.00 25 10 28.57 TMEM144 0 genome.wustl.edu 37 4 159133894 159133894 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 159133894 159133894 T G SNP TMEM144 ENST00000296529 human ensembl 74_37 +1 known missense c.75 p.N25K 0.967 pfam_DUF1632_TMEM144 pfam_DUF1632_TMEM144,pfam_Sugar_transport - no_errors TMEM144 HGNC ENSG00000164124 tier1 - - 81 0 0.00 61 17 21.79 TMEM200A 0 genome.wustl.edu 37 6 130762277 130762277 + Missense_Mutation SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 130762277 130762277 A C SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.710 p.K237T 0.570 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 31 0 0.00 26 4 13.33 TMEM254 0 genome.wustl.edu 37 10 81841421 81841422 + RNA INS - - A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 81841421 81841422 - A INS TMEM254 ENST00000463029 human ensembl 74_37 +1 known rna NULL NULL 0.039:0.038 - - - no_errors TMEM254 HGNC ENSG00000133678 tier1 30 0 0.00 15 3 16.67 TMPRSS15 0 genome.wustl.edu 37 21 19775826 19775826 + Silent SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 21 19775826 19775826 T C SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.114 p.V38 0.947 NULL pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 57 0 0.00 24 16 40.00 TOMM20 0 genome.wustl.edu 37 1 235291954 235291954 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 235291954 235291954 C T SNP TOMM20 ENST00000366607 human ensembl 74_37 -1 known missense c.77 p.R26H 1.000 pfam_MAS20_rcpt-related,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt-related,tigrfam_MAS20_rcpt-related pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related,tigrfam_MAS20_rcpt-related - no_errors TOMM20 HGNC ENSG00000173726 tier1 rs1130507 - 50 0 0.00 32 4 11.11 TOMM20L 0 genome.wustl.edu 37 14 58863034 58863034 + Frame_Shift_Del DEL A A - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 14 58863034 58863034 A - DEL TOMM20L ENST00000360945 human ensembl 74_37 +1 known frame_shift_del c.155 p.K53fs 0.000 pfam_MAS20_rcpt-related,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related - no_errors TOMM20L HGNC ENSG00000196860 tier1 31 0 0.00 19 2 9.52 TPP2 0 genome.wustl.edu 37 13 103301601 103301602 + RNA INS - - T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 13 103301601 103301602 - T INS TPP2 ENST00000490420 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors TPP2 HGNC ENSG00000134900 tier1 26 0 0.00 31 3 8.82 TPST1 0 genome.wustl.edu 37 7 65705524 65705524 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 65705524 65705524 C T SNP TPST1 ENST00000304842 human ensembl 74_37 +1 known missense c.112 p.R38C 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST1 HGNC ENSG00000169902 tier1 - - 58 0 0.00 39 4 9.30 TPTE 0 genome.wustl.edu 37 21 10916467 10916468 + Frame_Shift_Del DEL AT AT - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 21 10916467 10916468 AT 0 DEL TPTE ENST00000361285 human ensembl 74_37 -1 known frame_shift_del c.1179_1178 p.Y393fs 0.982:0.984 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 315 0 0.00 184 20 9.80 TRDMT1 0 genome.wustl.edu 37 10 17194051 17194051 + RNA SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 17194051 17194051 G T SNP TRDMT1 ENST00000452380 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRDMT1 HGNC ENSG00000107614 tier1 - - 44 0 0.00 40 31 43.66 TRIM21 0 genome.wustl.edu 37 11 4409631 4409631 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 4409631 4409631 C T SNP TRIM21 ENST00000254436 human ensembl 74_37 -1 known missense c.634 p.G212R 0.209 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 tier1 - - 38 0 0.00 23 6 20.69 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5625768 5625768 + Missense_Mutation SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 11 5625768 5625768 A C SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.512 p.K171T 0.883 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 tier1 - - 76 0 0.00 56 14 20.00 TRIM67 0 genome.wustl.edu 37 1 231335944 231335944 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 231335944 231335944 C T SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known silent c.1314 p.T438 0.050 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 tier1 - - 43 0 0.00 23 4 14.81 TRPS1 0 genome.wustl.edu 37 8 116616855 116616855 + Nonsense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 116616855 116616855 G T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known nonsense c.1341 p.Y447* 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 28 0 0.00 27 27 50.00 TRRAP 0 genome.wustl.edu 37 7 98579527 98579527 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 98579527 98579527 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.8749 p.R2917C 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 39 0 0.00 19 10 34.48 TSPAN7 0 genome.wustl.edu 37 X 38525451 38525451 + Missense_Mutation SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 38525451 38525451 A G SNP TSPAN7 ENST00000422612 human ensembl 74_37 +1 known missense c.236 p.E79G 1.000 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN7 HGNC ENSG00000156298 tier1 - - 105 0 0.00 32 23 41.82 TSSK3 0 genome.wustl.edu 37 1 32829275 32829275 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 32829275 32829275 G T SNP TSSK3 ENST00000373534 human ensembl 74_37 +1 known missense c.225 p.E75D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK3 HGNC ENSG00000162526 tier1 - - 36 0 0.00 25 4 13.79 TSTD3 0 genome.wustl.edu 37 6 99968887 99968887 + RNA SNP G G C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 6 99968887 99968887 G C SNP TSTD3 ENST00000452647 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TSTD3 HGNC ENSG00000228439 tier1 - - 229 0 0.00 137 36 20.34 TTN 0 genome.wustl.edu 37 2 179466867 179466867 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 179466867 179466867 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.47427 p.E15809D 0.999 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 30 0 0.00 25 15 36.59 TTN-AS1 0 genome.wustl.edu 37 2 179639257 179639257 + RNA SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 179639257 179639257 T G SNP TTN-AS1 ENST00000584485 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 32 0 0.00 18 15 45.45 UBQLN2 0 genome.wustl.edu 37 X 56591387 56591387 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 56591387 56591387 G T SNP UBQLN2 ENST00000338222 human ensembl 74_37 +1 known missense c.1081 p.A361S 0.898 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 tier1 - - 33 0 0.00 18 7 28.00 UBQLN4 0 genome.wustl.edu 37 1 156018405 156018405 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 156018405 156018405 G A SNP UBQLN4 ENST00000368309 human ensembl 74_37 -1 known missense c.787 p.R263W 1.000 superfamily_ARM-type_fold pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 tier1 - - 86 0 0.00 50 4 7.41 UCN2 0 genome.wustl.edu 37 3 48600422 48600422 + Nonsense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 48600422 48600422 C A SNP UCN2 ENST00000273610 human ensembl 74_37 -1 known nonsense c.136 p.E46* 0.024 NULL pfam_Urocortin_II/III - no_errors UCN2 HGNC ENSG00000145040 100 0 0.00 61 4 6.15 UPF2 0 genome.wustl.edu 37 10 12009383 12009386 + Frame_Shift_Del DEL TTAG TTAG - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 TTAG TTAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 10 12009383 12009386 TTAG - DEL UPF2 ENST00000356352 human ensembl 74_37 -1 known frame_shift_del c.2024_2021 p.T674fs 1.000:1.000:0.962:1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 tier1 63 0 0.00 47 18 27.69 UQCRQ 0 genome.wustl.edu 37 5 132203211 132203211 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 132203211 132203211 G T SNP UQCRQ ENST00000378665 human ensembl 74_37 +1 known missense c.186 p.W62C 1.000 pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8 pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8 - no_errors UQCRQ HGNC ENSG00000164405 tier1 - - 54 0 0.00 48 4 7.69 USP24 0 genome.wustl.edu 37 1 55560968 55560968 + Silent SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 1 55560968 55560968 G T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known silent c.5683 p.R1895 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 46 0 0.00 28 2 6.67 USP27X-AS1 0 genome.wustl.edu 37 X 49643205 49643205 + RNA SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 X 49643205 49643205 C T SNP USP27X-AS1 ENST00000437322 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors USP27X-AS1 HGNC ENSG00000234390 tier1 - - 50 0 0.00 14 19 57.58 USP5 0 genome.wustl.edu 37 12 6965536 6965536 + Nonsense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 6965536 6965536 G A SNP USP5 ENST00000229268 human ensembl 74_37 +1 known nonsense c.506 p.W169* 1.000 pirsf_Ubiquitinyl_hydrolase pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP5 HGNC ENSG00000111667 tier1 - - 41 0 0.00 30 6 16.67 VWF 0 genome.wustl.edu 37 12 6182795 6182795 + Silent SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 6182795 6182795 G A SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.987 p.C329 1.000 pirsf_VWF,pfam_TIL_dom,superfamily_TIL_dom pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 38 0 0.00 15 5 25.00 WBSCR17 0 genome.wustl.edu 37 7 70880968 70880968 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 70880968 70880968 G A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.683 p.R228H 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 38 0 0.00 27 6 18.18 WDR34 0 genome.wustl.edu 37 9 131403138 131403138 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 9 131403138 131403138 C T SNP WDR34 ENST00000372715 human ensembl 74_37 -1 known silent c.267 p.T89 0.030 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR34 HGNC ENSG00000119333 tier1 rs137886760 - 44 0 0.00 21 6 22.22 WRN 0 genome.wustl.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 30945377 30945379 AAG - DEL WRN ENST00000298139 human ensembl 74_37 +1 known in_frame_del c.1517_1519 p.E510in_frame_del 0.904:0.908:0.988 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 64 0 0.00 23 2 8.00 WRN 0 genome.wustl.edu 37 8 30982073 30982073 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 8 30982073 30982073 G T SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.2666 p.R889L 1.000 pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 59 0 0.00 26 4 13.33 WSCD1 0 genome.wustl.edu 37 17 6023844 6023844 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 17 6023844 6023844 C T SNP WSCD1 ENST00000317744 human ensembl 74_37 +1 known missense c.1591 p.R531C 0.695 superfamily_P-loop_NTPase pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 tier1 - - 115 0 0.00 42 17 28.33 XIRP2 0 genome.wustl.edu 37 2 168099884 168099884 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 2 168099884 168099884 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.1982 p.R661M 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 28 0 0.00 36 2 5.26 XYLT1 0 genome.wustl.edu 37 16 17451880 17451880 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 17451880 17451880 G T SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known missense c.391 p.L131M 1.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 tier1 - - 85 0 0.00 59 4 6.35 YKT6 0 genome.wustl.edu 37 7 44244168 44244168 + Missense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 44244168 44244168 G T SNP YKT6 ENST00000223369 human ensembl 74_37 +1 known missense c.106 p.V36F 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin - no_errors YKT6 HGNC ENSG00000106636 tier1 - - 54 0 0.00 51 4 7.14 ZBTB20 0 genome.wustl.edu 37 3 114069573 114069573 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 114069573 114069573 C T SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1352 p.S451N 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 32 0 0.00 56 4 6.67 ZCWPW2 0 genome.wustl.edu 37 3 28566105 28566105 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 3 28566105 28566105 T G SNP ZCWPW2 ENST00000383768 human ensembl 74_37 +1 known missense c.997 p.L333V 0.306 NULL pfam_Znf_CW,pfam_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 tier1 - - 93 0 0.00 20 76 79.17 ZDHHC17 0 genome.wustl.edu 37 12 77202869 77202869 + Missense_Mutation SNP C C A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 12 77202869 77202869 C A SNP ZDHHC17 ENST00000334822 human ensembl 74_37 +1 known missense c.367 p.L123M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt - no_errors ZDHHC17 HGNC ENSG00000186908 92 0 0.00 73 4 5.19 ZFP28 0 genome.wustl.edu 37 19 57065438 57065438 + Silent SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 57065438 57065438 T C SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known silent c.1284 p.T428 0.558 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 tier1 - - 49 0 0.00 37 19 33.93 ZNF106 0 genome.wustl.edu 37 15 42716944 42716944 + RNA SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 15 42716944 42716944 C T SNP ZNF106 ENST00000565660 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors ZNF106 HGNC ENSG00000103994 tier1 - - 15 0 0.00 12 4 25.00 ZNF329 0 genome.wustl.edu 37 19 58640829 58640829 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 58640829 58640829 T G SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known missense c.42 p.E14D 0.684 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 tier1 - - 33 0 0.00 22 9 29.03 ZNF366 0 genome.wustl.edu 37 5 71756569 71756569 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 5 71756569 71756569 C T SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.755 p.R252H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 tier1 - - 60 0 0.00 42 4 8.70 ZNF43 0 genome.wustl.edu 37 19 21990944 21990944 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 21990944 21990944 T G SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.1895 p.N632T 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 tier1 - - 54 0 0.00 34 15 30.61 ZNF439 0 genome.wustl.edu 37 19 11979019 11979019 + Nonsense_Mutation SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 11979019 11979019 G T SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known nonsense c.1135 p.E379* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF439 HGNC ENSG00000171291 70 0 0.00 62 4 6.06 ZNF461 0 genome.wustl.edu 37 19 37130420 37130420 + Missense_Mutation SNP T T G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 37130420 37130420 T G SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known missense c.827 p.N276T 0.947 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF461 HGNC ENSG00000197808 tier1 - - 106 0 0.00 46 28 37.84 ZNF497 0 genome.wustl.edu 37 19 58867516 58867516 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 58867516 58867516 C T SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known missense c.1486 p.A496T 0.001 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 tier1 - - 34 0 0.00 7 4 36.36 ZNF521 0 genome.wustl.edu 37 18 22806601 22806601 + Silent SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 18 22806601 22806601 A G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.1281 p.T427 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 65 0 0.00 22 9 29.03 ZNF595 0 genome.wustl.edu 37 4 53276 53276 + RNA SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 4 53276 53276 C T SNP ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF595 HGNC ENSG00000197701 tier1 - - 157 0 0.00 216 12 5.26 ZNF677 0 genome.wustl.edu 37 19 53741699 53741699 + Missense_Mutation SNP A A C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 53741699 53741699 A C SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.281 p.F94C 0.531 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 tier1 - - 70 0 0.00 25 19 43.18 ZNF688 0 genome.wustl.edu 37 16 30581395 30581395 + Missense_Mutation SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 16 30581395 30581395 C T SNP ZNF688 ENST00000223459 human ensembl 74_37 -1 known missense c.673 p.A225T 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF688 HGNC ENSG00000229809 tier1 - - 87 0 0.00 30 28 47.46 ZNF733P 0 genome.wustl.edu 37 7 62752611 62752611 + RNA SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 62752611 62752611 G T SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors ZNF733P HGNC ENSG00000185037 tier1 - - 147 0 0.00 119 23 16.20 ZNF736 0 genome.wustl.edu 37 7 63808854 63808854 + Missense_Mutation SNP G G A TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 7 63808854 63808854 G A SNP ZNF736 ENST00000355095 human ensembl 74_37 +1 known missense c.613 p.E205K 0.101 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF736 HGNC ENSG00000234444 tier1 - - 38 0 0.00 39 4 9.30 ZNF90 0 genome.wustl.edu 37 19 20190747 20190748 + RNA INS - - C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b154131f-fe7b-4e83-96b4-81b23fad84e2 5884f0ba-19ec-4f30-bd6d-86742a79b271 19 20190747 20190748 - C INS ZNF90 ENST00000492328 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997 - - - no_errors ZNF90 HGNC ENSG00000213988 tier1 30 0 0.00 17 2 10.53